Materiały źródłowe

• #1 Patau’s syndrome

  https://www.nhs.uk/conditions/pataus-syndrome/

  Patau’s syndrome is a serious, rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called trisomy 13. […] Patau’s syndrome happens by chance and is not caused by anything the parents have done. Most cases do not run in families (they’re not inherited). They happen randomly during conception, when the sperm and egg combine and the foetus starts to develop. […] There’s an error when the cells divide, resulting in an additional copy, or part of a copy, of chromosome 13, which severely affects the baby’s development in the womb. […] In most cases of Patau’s syndrome, a baby has a whole extra copy of chromosome number 13 in their body’s cells. This is sometimes known as trisomy 13 or simple trisomy 13. […] In some cases of Patau’s syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. Patau’s syndrome that arises because of this can be inherited. […] Sometimes only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of 1 chromosome 13 is extra (partial trisomy 13).

• #2 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] The cause of Patau syndrome is the presence of three copies of chromosome 13; this is due most commonly to nondisjunction in meiosis, occurring more frequently in mothers of advanced age (age greater than 35). […] Another cause is an unbalanced Robertsonian translocation, which results in two normal copies of chromosome 13 and an additional long arm of chromosome 13. […] Another less common cause is mosaicism, which results in 3 copies of chromosome 13 in some cells and two copies in the others. Mosaicism is the outcome of a mitotic nondisjunction error and is unrelated to maternal age. […] Patau syndrome is caused most commonly by trisomy 13 due to nondisjunction, an unbalanced translocation, or mosaicism.

• #3 Trisomy 13: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trisomy-13/

  Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. […] Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13. […] Trisomy 13 can also occur when chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. […] Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. […] Translocation trisomy 13 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome.

• #4 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome, also called trisomy 13, is the least common and most severe of the viable autosomal trisomies. […] Patau syndrome is caused by an extra copy of chromosome 13, a medium-length acrocentric chromosome. […] Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

• #5 Patau’s syndrome | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/pataus-syndrome/

  Pataus syndrome, also known as Trisomy 13, is a rare but serious genetic condition. […] If a baby has Pataus syndrome, they have inherited an extra copy of chromosome 13. This extra copy can be present in some or all of the babys cells and can lead to health problems for the baby. […] Most cases result from a random change in the egg or sperm in healthy parents. This change is not caused by anything the parents did before or during pregnancy.

• #6 Trisomy 13 (also known as Patau syndrome) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/trisomy13.html

  Trisomy 13, also called Patau syndrome, is a severe chromosomal condition, with multiple malformations due to an additional copy of all or part of chromosome 13. The cause of this additional copy of chromosome 13 is unknown. […] Most cases are not inherited and result from random formation of eggs and sperm in healthy parents.

• #7 Patau’s syndrome

  https://health-shared.com/topics/pataus-syndrome-1533698870291

  Patau’s syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called trisomy 13. […] Patau’s syndrome happens by chance and isn’t caused by anything the parents have done. […] Most cases of the syndrome don’t run in families (they’re not inherited). They occur randomly during conception, when the sperm and egg combine and the foetus starts to develop. […] An error occurs when the cells divide, resulting in an additional copy or part of a copy of chromosome 13, which severely affects the baby’s development in the womb. […] In most cases of Patau’s syndrome (75 to 90%), a baby has a whole extra copy of chromosome number 13 in their body’s cells. This is sometimes known as trisomy 13 or simple trisomy 13.

• #8 Patau’s Syndrome – South West Fetal Network

  https://southwestfetalmedicine.co.uk/conditions/pataus-syndrome/

  Pataus syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the bodys cells. Its also called trisomy 13. […] Pataus syndrome happens by chance and is not caused by anything the parents have done. […] Most cases of the syndrome do not run in families (theyre not inherited). They occur randomly during conception, when the sperm and egg combine and the foetus starts to develop. […] An error occurs when the cells divide, resulting in an additional copy, or part of a copy, of chromosome 13, which severely affects the babys development in the womb. […] In most cases of Pataus syndrome, a baby has a whole extra copy of chromosome number 13 in their bodys cells. This is sometimes known as trisomy 13 or simple trisomy 13. […] In up to 1 in 10 cases of Pataus syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. […] Pataus syndrome that arises because of this can be inherited. […] In a further 1 in 20 cases, only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of 1 chromosome 13 is extra (partial trisomy 13).

• #9 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] The cause of Patau syndrome is the presence of three copies of chromosome 13; this is due most commonly to nondisjunction in meiosis, occurring more frequently in mothers of advanced age (age greater than 35). […] Another cause is an unbalanced Robertsonian translocation, which results in two normal copies of chromosome 13 and an additional long arm of chromosome 13. […] Another less common cause is mosaicism, which results in 3 copies of chromosome 13 in some cells and two copies in the others. Mosaicism is the outcome of a mitotic nondisjunction error and is unrelated to maternal age. […] Patau syndrome is caused most commonly by trisomy 13 due to nondisjunction, an unbalanced translocation, or mosaicism.

• #10 Patau Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/patau-syndrome/

  Patau syndrome is a condition caused by having an extra copy of chromosome 13. This usually happens due to a process called nondisjunction in meiosis. This occurs more often in mothers who are older than 35. […] A different cause is a particular genetic event called a Robertsonian translocation. This leads to a person having two normal copies of chromosome 13 and an extra large part of chromosome 13. […] A less common cause of Patau syndrome is a condition called mosaicism, where some cells have three copies of chromosome 13, and others have two. Mosaicism is the result of an defect during cell division and isnt related to a mothers age. […] Patau syndrome is caused by having an extra copy of chromosome 13, which can occur due to nondisjunction in meiosis, a Robertsonian translocation, or mosaicism.

• #11 Patau syndrome | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/patau-syndrome

  Patau syndrome, also known as trisomy 13, is a severe genetic disorder characterized by the presence of an extra chromosome 13 in each cell, leading to a total of 47 chromosomes instead of the typical 46. This condition arises primarily due to nondisjunction during the formation of egg or sperm cells, with advanced maternal age identified as a significant risk factor. […] The presence of an extra chromosome 13 in the cells of a developing fetus results from a type of error called nondisjunction, which can occur during (sperm or egg) production in either parent. Either the failure of chromosomes to separate from each other during the first meiotic division or the failure of sister chromatids to separate from each other during the second meiotic division will result in mature sperm cells or egg cells that have either one extra or one missing chromosome.

• #12 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Trisomy 13 (Patau syndrome) is a rare genetic condition that occurs when the 13th chromosome appears three times (trisomy) instead of two times in a person’s DNA. […] A third chromosome 13 that attaches to a pair of chromosomes causes trisomy 13. A person with trisomy 13 has 47 total chromosomes. […] Random copying errors where more genetic material connects to a chromosome than necessary (complete trisomy 13) during the formation of the sperm and egg before conception causes trisomy 13. […] In about 20% of trisomy 13 cases, symptoms occur when part of chromosome 13 attaches to a nearby chromosome when eggs and sperm form (translocation) during fetal development. […] In rare cases, an extra copy of chromosome 13 appears in some cells in the body but not all cells. This means that some cells in the body have three chromosome 13s and others only have a pair of chromosome 13 (euploid). The severity of symptoms for a mosaic trisomy 13 diagnosis depends on how many cells have the third copy of trisomy 13. Symptoms are more severe if more cells have a third copy.

• #13 Patau’s syndrome

  https://health-shared.com/topics/pataus-syndrome-1533698870291

  In 5 to 10% of cases of Patau’s syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. […] Patau’s syndrome that arises because of this can be inherited. […] In a further 5% of cases, only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of one chromosome 13 is extra (partial trisomy 13).

• #14 Patau’s syndrome | NICS Well

  https://www.nicswell.co.uk/conditions-and-treatments/pataus-syndrome

  In up to 1 in 10 cases of Patau’s syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. […] In a further 1 in 20 cases, only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of 1 chromosome 13 is extra (partial trisomy 13).

• #15 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. […] The cause of Patau syndrome is the presence of three copies of chromosome 13; this is due most commonly to nondisjunction in meiosis, occurring more frequently in mothers of advanced age (age greater than 35). […] Another cause is an unbalanced Robertsonian translocation, which results in two normal copies of chromosome 13 and an additional long arm of chromosome 13. […] Another less common cause is mosaicism, which results in 3 copies of chromosome 13 in some cells and two copies in the others. Mosaicism is the outcome of a mitotic nondisjunction error and is unrelated to maternal age. […] Patau syndrome is caused most commonly by trisomy 13 due to nondisjunction, an unbalanced translocation, or mosaicism.

• #16 Patau Syndrome (Trisomy 13) | Concise Medical Knowledge

  https://www.lecturio.com/concepts/patau-syndrome-trisomy-13/

  Trisomy 13, or Patau syndrome, is a genetic syndrome caused by the presence of 3 copies of chromosome 13. […] Trisomy 13: presence of 3 copies of the 13th chromosome. […] There are 2 types of trisomy 13: True trisomy 13: presence of 47 chromosomes in each cell due to an extra 13th chromosome. […] Trisomy 13 mosaicism: presence of 46 chromosomes in some cells and 47 chromosomes in others (with an extra 13th chromosome). […] Trisomy 13 from unbalanced Robertsonian translocation results in 2 copies of chromosome 13 and an extra copy of a segment of chromosome 13 due to translocation.

• #17 Patau syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Patau_syndrome

  Most cases of Patau syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes. […] Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. […] Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13.

• #18 Trisomy 13 (Patau syndrome) | Revvity

  https://www.revvity.com/disorders/trisomy-13-patau-syndrome

  Patau syndrome, also called trisomy 13, is a chromosomal disorder caused by the presence of an extra chromosome 13 in all or some of the cells. […] In other cases, an extra portion of chromosome 13 is attached to another chromosome (“unbalanced translocation”) which may be due to a balanced translocation in one parent. […] Patau syndrome occurs in approximately 1 out of every 16,000 live-born infants. Most cases of Patau syndrome are sporadic and are not inherited. However, Patau syndrome caused by a translocation can be inherited. In this scenario, an unaffected carrier parent can have a rearrangement of genetic material between chromosome 13 and another chromosome. This is called a balanced translocation because there is no extra or missing material from the chromosomes. Although they do not have Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.

• #19 Patau’s syndrome

  https://health-shared.com/topics/pataus-syndrome-1533698870291

  In 5 to 10% of cases of Patau’s syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. […] Patau’s syndrome that arises because of this can be inherited. […] In a further 5% of cases, only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of one chromosome 13 is extra (partial trisomy 13).

• #20 Patau Syndrome (Trisomy 13) | Anthroholic

  https://anthroholic.com/patau-syndrome-trisomy-13?srsltid=AfmBOoopiBsqR_nT90FNCrpnhQwTjA1BU6-CKq7Il1d2tYpnx3Crtb4d

  Patau syndrome occurs due to a genetic anomaly during cell division, resulting in the presence of a full or partial extra copy of chromosome 13. It is predominantly caused by three distinct genetic events: […] Full Trisomy 13: This is the most common cause, accounting for approximately 80% of cases. In this instance, an extra copy of chromosome 13 appears in every cell in the body. […] Trisomy 13 Mosaicism: Accounting for around 5% of cases, trisomy 13 mosaicism occurs when the extra chromosome 13 only appears in some cells, not all. […] Partial Trisomy 13: This rare type occurs when a portion of chromosome 13 becomes attached (translocated) to another chromosome during cell division, resulting in extra genetic material from chromosome 13.

• #21 Patau Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/patau-syndrome/

  Patau syndrome is a condition caused by having an extra copy of chromosome 13. This usually happens due to a process called nondisjunction in meiosis. This occurs more often in mothers who are older than 35. […] A different cause is a particular genetic event called a Robertsonian translocation. This leads to a person having two normal copies of chromosome 13 and an extra large part of chromosome 13. […] A less common cause of Patau syndrome is a condition called mosaicism, where some cells have three copies of chromosome 13, and others have two. Mosaicism is the result of an defect during cell division and isnt related to a mothers age. […] Patau syndrome is caused by having an extra copy of chromosome 13, which can occur due to nondisjunction in meiosis, a Robertsonian translocation, or mosaicism.

• #22 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Patau syndrome occurs when there is an extra copy of chromosome 13 in all or some cells. […] Patau syndrome usually arises spontaneously owing to an error in cell division. This is most commonly in the egg, but it occasionally occurs in the sperm. The chance increases with maternal age. […] In up to 1 in 10 cases of Patau syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. […] Patau syndrome occurs in 1 in 5,000 live births (though it should be noted that these figures will be confounded by the numbers of pregnancy terminations). It usually arises when each cell has three, rather than the usual two, copies of chromosome 13. […] Some individuals with Patau syndrome have three copies of chromosome 13 in some of their cells and two in the other cells. This is known as mosaic Patau syndrome. Individuals with mosaic Patau syndrome tend to have milder features.

• #23 Patau’s syndrome | NICS Well

  https://www.nicswell.co.uk/conditions-and-treatments/pataus-syndrome

  In up to 1 in 10 cases of Patau’s syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. […] In a further 1 in 20 cases, only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of 1 chromosome 13 is extra (partial trisomy 13).

• #24 Patau’s syndrome

  https://www.nhs.uk/conditions/pataus-syndrome/

  Patau’s syndrome is a serious, rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called trisomy 13. […] Patau’s syndrome happens by chance and is not caused by anything the parents have done. Most cases do not run in families (they’re not inherited). They happen randomly during conception, when the sperm and egg combine and the foetus starts to develop. […] There’s an error when the cells divide, resulting in an additional copy, or part of a copy, of chromosome 13, which severely affects the baby’s development in the womb. […] In most cases of Patau’s syndrome, a baby has a whole extra copy of chromosome number 13 in their body’s cells. This is sometimes known as trisomy 13 or simple trisomy 13. […] In some cases of Patau’s syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. Patau’s syndrome that arises because of this can be inherited. […] Sometimes only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of 1 chromosome 13 is extra (partial trisomy 13).

• #25 Patau Syndrome Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/947706-clinical

  Although specific etiologic factors have not been identified, a significant association is recognized between Patau syndrome and increased maternal age. […] Aneuploidy is most often the result of nondisjunction during maternal meiosis I.

• #26 Patau Syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30855930/

  Trisomy 13 was first described as the cause of a distinct clinical syndrome in 1960 by Dr. Patau et al. […] Advanced maternal age is a risk for trisomy 13 due to an increased frequency of nondisjunction. However, 20% of Patau syndrome can result from an unbalanced translocation and rarely by mosaicism. […] Long surviving patients with Patau syndrome are less likely to have cerebral and cardiovascular malformations, typically the primary cause of the poor prognosis with Patau syndrome.

• #27 Trisomy 13: Diagnosis, Causes, Prognosis, and More

  https://www.healthline.com/health/childrens-health/trisomy-13

  Patau syndrome is also known as trisomy 13. It means that a person has an extra copy of chromosome number 13. […] In most cases, trisomy 13 happens spontaneously soon after the sperm and egg meet. The issue may arise as the reproductive material of either parent divides, or it may happen as cells divide after fertilization itself. In either of these cases, the extra chromosome happens at random. […] That said, in rare cases, some people may pass a trisomy onto their child if they themselves have what is called a balanced translocation. This means that the parent carrier has a set of chromosomes that aren’t the norm but that they are balanced, so they don’t cause medical issues. However, when the parent with the balanced translocation has a child, the genetic information may be passed on and cause a trisomy 13 in the child.

• #28 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Patau-Syndrome.aspx

  Pataus Syndrome is also known as Trisomy 13. It is a chromosome-based, rare genetic disorder in which the patient has an extra copy of chromosome 13 in some or all of the cells in the body. Normally the baby should have two copies of the chromosome but in this case, there are three. The presence of the extra chromosome causes abnormal development of the fetus, often resulting in a miscarriage or stillbirth. […] The extra copy of chromosome 13 is generated by random events. The formation of the eggs or sperm may show translocation of this chromosome which causes trisomy 13. This is a condition that may be inherited or may occur randomly during conception. […] Statistically speaking, the older the woman is at the time of conception, the more likely there is to be a genetic problem with the fetus. This is why women are advised to conceive before they reach the age of thirty. The condition of their eggs is not as robust as they age.

• #29 Trisomy 13 – UF Health

  https://ufhealth.org/conditions-and-treatments/trisomy-13

  Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body’s cells. […] Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus. […] Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy. Rarely, the extra material may be attached to another chromosome (translocation). […] Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling. This may help them be aware of the chances of having another child with the condition.

• #30 Trisomy 13: Diagnosis, Causes, Prognosis, and More

  https://www.healthline.com/health/childrens-health/trisomy-13

  Patau syndrome is also known as trisomy 13. It means that a person has an extra copy of chromosome number 13. […] In most cases, trisomy 13 happens spontaneously soon after the sperm and egg meet. The issue may arise as the reproductive material of either parent divides, or it may happen as cells divide after fertilization itself. In either of these cases, the extra chromosome happens at random. […] That said, in rare cases, some people may pass a trisomy onto their child if they themselves have what is called a balanced translocation. This means that the parent carrier has a set of chromosomes that aren’t the norm but that they are balanced, so they don’t cause medical issues. However, when the parent with the balanced translocation has a child, the genetic information may be passed on and cause a trisomy 13 in the child.

• #31 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome, also called trisomy 13, is the least common and most severe of the viable autosomal trisomies. […] Patau syndrome is caused by an extra copy of chromosome 13, a medium-length acrocentric chromosome. […] Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

• #32 Patau syndrome | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/patau-syndrome

  Since each chromosome contains thousands of genes, it is not surprising that individuals with extra or missing chromosomes in all cells would have a severe imbalance of genetic information and suffer from multiple developmental anomalies. […] The only consistently reported risk factor is advanced maternal age, since the extra copy of chromosome 13 most commonly arises from an error in meiosis during egg cell maturation.

• #33 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome, also called trisomy 13, is the least common and most severe of the viable autosomal trisomies. […] Patau syndrome is caused by an extra copy of chromosome 13, a medium-length acrocentric chromosome. […] Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

• #34 Patau syndrome | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/patau-syndrome

  Since each chromosome contains thousands of genes, it is not surprising that individuals with extra or missing chromosomes in all cells would have a severe imbalance of genetic information and suffer from multiple developmental anomalies. […] The only consistently reported risk factor is advanced maternal age, since the extra copy of chromosome 13 most commonly arises from an error in meiosis during egg cell maturation.

• #35 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome, also called trisomy 13, is the least common and most severe of the viable autosomal trisomies. […] Patau syndrome is caused by an extra copy of chromosome 13, a medium-length acrocentric chromosome. […] Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

• #36 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Patau syndrome, also called trisomy 13, is the least common and most severe of the viable autosomal trisomies. […] Patau syndrome is caused by an extra copy of chromosome 13, a medium-length acrocentric chromosome. […] Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. […] Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies. […] Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. […] Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

• #37 Patau Syndrome (Trisomy 13) Symptoms and Diagnosis

  https://www.verywellhealth.com/patau-syndrome-trisomy-13-2860981

  Patau syndrome, or Trisomy 13, is the least common of the autosomal trisomies and most severe, after Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18). […] The exact cause of Patau syndrome is not known; the same is true for VATER Syndrome. […] Patau syndrome, like Down syndrome, is associated with the increased age of the mother.

• #38 Patau Syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30855930/

  Trisomy 13 was first described as the cause of a distinct clinical syndrome in 1960 by Dr. Patau et al. […] Advanced maternal age is a risk for trisomy 13 due to an increased frequency of nondisjunction. However, 20% of Patau syndrome can result from an unbalanced translocation and rarely by mosaicism. […] Long surviving patients with Patau syndrome are less likely to have cerebral and cardiovascular malformations, typically the primary cause of the poor prognosis with Patau syndrome.

• #39 Trisomy 13 (Patau Syndrome): What You Need to Know

  https://www.rupahealth.com/post/trisomy-13-patau-syndrome-what-you-need-to-know

  Trisomy 13 occurs when an extra copy of chromosome 13 disrupts normal growth and development. […] Patau syndrome is named after Swiss geneticist Dr. Klaus Patau, who first described the condition in 1960. Dr. Patau and his team discovered that the syndrome is caused by an extra chromosome 13. […] While the genetic cause of Trisomy 13 is well understood, the exact reasons why some pregnancies are affected by this condition are not always clear. Trisomy 13 is typically caused by random genetic errors during egg or sperm formation, which leads to an extra chromosome 13. […] The extra chromosome 13 usually results from nondisjunction, a random error during cell division when chromosomes fail to separate properly. This results in an extra chromosome in one reproductive cell. […] In rarer cases, Trisomy 13 can result from a chromosomal translocation, where part of chromosome 13 attaches to another chromosome.

• #40 Patau syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Patau_syndrome

  Most cases of Patau syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes. […] Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. […] Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13.

• #41 Patau Syndrome: Symptoms, Causes, Treatment | DW

  https://www.disabled-world.com/disability/types/patau-syndrome.php

  Patau syndrome is a genetic disorder in which a person’s chromosome thirteen appears three times instead of twice. […] Most people with Patau syndrome have not inherited it, instead receiving it as a result of random events during the formation of eggs and sperm in healthy parents. […] Patau syndrome happens when an extra DNA from chromosome thirteen appears in some or all of the cells in a person’s body. […] Most people with Patau syndrome have three copies of chromosome thirteen in each cell of their body instead of the usual two copies. The excess genetic material is disruptive to their development, leading to the characteristic features of Patau syndrome. […] The events that have led to the syndrome happened in either the sperm or the egg which formed the fetus.

• #42 Patau syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Patau_syndrome

  Most cases of Patau syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes. […] Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. […] Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13.

• #43 Patau syndrome – wikidoc

  https://www.wikidoc.org/index.php/Patau_syndrome

  Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. […] Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13.

• #44 Patau syndrome – wikidoc

  https://www.wikidoc.org/index.php/Patau_syndrome

  Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. […] Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13.

• #45 📃 Trisomy 13

  https://thefetus.net/content/trisomy-13-12

  Definition: Chromosomal disorder characterized by the presence of an extra chromosome 13 or part of the long arm, presenting with congenital malformations. […] Etiology: Autosomal trisomy (47, +13) […] Pathogenesis: The pathogenesis is unknown. […] Prognosis: Most fetuses die while in-utero or during childhood. If they survive, these children may have severe development anomalies. […] Recurrence risk: The recurrence risk varies according to the chromosomic defect and the maternal age. For trisomy 13, the risk of recurrence of trisomy 13 or any other clinically viable trisomy (trisomy 18 or 21) is of about 0.5% over the inherent risk to the maternal age.

• #46 Patau’s syndrome

  https://www.babycentre.co.uk/a1024192/pataus-syndrome

  Patau’s syndrome is a rare abnormality where a baby develops with too many chromosomes. […] The causes are unknown, but the risk of having a baby with Patau’s syndrome increases as you become older. […] Full trisomy 13 happens randomly due to a genetic abnormality in an egg or sperm prior to conception. […] This error happens by chance. It isn’t caused by anything that you have done and it does not run in families. […] Nevertheless, there is some evidence that your risk of having another pregnancy affected by trisomy 13 is slightly higher than it would be for a woman who had not had a trisomy 13 pregnancy before. […] Translocational Patau’s syndrome, when an extra copy of chromosome 13 attaches itself to another chromosome, can be inherited.

• #47 Trisomy 13 (Patau syndrome) | Revvity

  https://www.revvity.com/disorders/trisomy-13-patau-syndrome

  Patau syndrome, also called trisomy 13, is a chromosomal disorder caused by the presence of an extra chromosome 13 in all or some of the cells. […] In other cases, an extra portion of chromosome 13 is attached to another chromosome (“unbalanced translocation”) which may be due to a balanced translocation in one parent. […] Patau syndrome occurs in approximately 1 out of every 16,000 live-born infants. Most cases of Patau syndrome are sporadic and are not inherited. However, Patau syndrome caused by a translocation can be inherited. In this scenario, an unaffected carrier parent can have a rearrangement of genetic material between chromosome 13 and another chromosome. This is called a balanced translocation because there is no extra or missing material from the chromosomes. Although they do not have Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.

• #48 Trisomy 18 and 13 | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/trisomy-18-and-13

  Trisomy 18 and 13 are usually caused by spontaneous genetic mutations that occur at the time of fertilization. Normally, each egg and sperm cell contains 23 chromosomes. The union of these cells creates 23 pairs, or 46 total chromosomes, half from the mother and half from the father. Sometimes, an error occurs when an egg or sperm cell is forming, causing it to have an extra chromosome #18 or #13. […] When this cell contributes the extra chromosome 18 to the embryo, trisomy 18 results. […] When this cell contributes the extra chromosome 13 to the embryo, trisomy 13 results. […] The extra chromosome 18 or 13 can come from either the mother’s egg cell or the father’s sperm cell. […] In some instances, the extra chromosome 18 or 13 is attached to another chromosome in the egg or sperm. This is called translocation and is the only form of trisomy 18 or 13 that can be inherited. Sometimes, a parent can carry a „balanced” rearrangement in which chromosome 18 or 13 is attached to another chromosome. However, since the parent does not have any extra or missing chromosome material, they are said to have a „balanced translocation” and they are usually normal and healthy.

• #49 Trisomy 13 – UF Health

  https://ufhealth.org/conditions-and-treatments/trisomy-13

  Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body’s cells. […] Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus. […] Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy. Rarely, the extra material may be attached to another chromosome (translocation). […] Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling. This may help them be aware of the chances of having another child with the condition.

• #50 Trisomy 13 (Patau Syndrome) – Mississippi State Department of Health

  https://msdh.ms.gov/msdhsite/handlers/printcontent.cfm?ContentID=23433&ThisPageURL=https%3A%2F%2Fmsdh%2Ems%2Egov%2Fpage%2F41%2C0%2C285%2C980%2Ehtml&EntryCode=23433&GroupID=41

  Trisomy 13, known as Patau Syndrome, is a rare condition resulting from genetic errors on the 13th chromosome. […] Trisomy 13 occurs when children have three copies of chromosome 13 instead of two. […] The disorder occurs in approximately 1 in 16,000 live births and much more commonly affects females than males. […] Children with Trisomy 13 often have craniofacial defects such as cleft lip and palate, congenital heart defects, and abnormalities of the brain and spinal cord. […] Infants may also have eye defects which may result in unusually small eyes, more than the normal number of fingers and/or toes, kidney defects, and decreased muscle tone. […] Although there is no cure for Trisomy 13, children may receive treatment to manage their specific symptoms and health conditions based on the decisions of their medical team and family.

• #51 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Patau syndrome occurs when there is an extra copy of chromosome 13 in all or some cells. […] Patau syndrome usually arises spontaneously owing to an error in cell division. This is most commonly in the egg, but it occasionally occurs in the sperm. The chance increases with maternal age. […] In up to 1 in 10 cases of Patau syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. […] Patau syndrome occurs in 1 in 5,000 live births (though it should be noted that these figures will be confounded by the numbers of pregnancy terminations). It usually arises when each cell has three, rather than the usual two, copies of chromosome 13. […] Some individuals with Patau syndrome have three copies of chromosome 13 in some of their cells and two in the other cells. This is known as mosaic Patau syndrome. Individuals with mosaic Patau syndrome tend to have milder features.

• #52 Patau syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/patau-syndrome?lang=us

  Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. […] The estimated incidence is approximately 1:6000. There may be an increased incidence with advanced maternal age. […] Three forms are known: free trisomy 13: classical form, translocation trisomy 13, mosaic trisomy 13.

• #53 Patau Syndrome (Trisomy 13) Symptoms and Diagnosis

  https://www.verywellhealth.com/patau-syndrome-trisomy-13-2860981

  Patau syndrome, or Trisomy 13, is the least common of the autosomal trisomies and most severe, after Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18). […] The exact cause of Patau syndrome is not known; the same is true for VATER Syndrome. […] Patau syndrome, like Down syndrome, is associated with the increased age of the mother.

• #54 Trisomy 13 (Patau Syndrome) – Mississippi State Department of Health

  https://msdh.ms.gov/msdhsite/handlers/printcontent.cfm?ContentID=23433&ThisPageURL=https%3A%2F%2Fmsdh%2Ems%2Egov%2Fpage%2F41%2C0%2C285%2C980%2Ehtml&EntryCode=23433&GroupID=41

  Trisomy 13, known as Patau Syndrome, is a rare condition resulting from genetic errors on the 13th chromosome. […] Trisomy 13 occurs when children have three copies of chromosome 13 instead of two. […] The disorder occurs in approximately 1 in 16,000 live births and much more commonly affects females than males. […] Children with Trisomy 13 often have craniofacial defects such as cleft lip and palate, congenital heart defects, and abnormalities of the brain and spinal cord. […] Infants may also have eye defects which may result in unusually small eyes, more than the normal number of fingers and/or toes, kidney defects, and decreased muscle tone. […] Although there is no cure for Trisomy 13, children may receive treatment to manage their specific symptoms and health conditions based on the decisions of their medical team and family.

• #55 Patau syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/patau-syndrome?lang=us

  Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. […] The estimated incidence is approximately 1:6000. There may be an increased incidence with advanced maternal age. […] Three forms are known: free trisomy 13: classical form, translocation trisomy 13, mosaic trisomy 13.

• #56 Trisomy 13 – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/trisomy-13

  Trisomy 13 is caused by an extra chromosome 13 and causes abnormal forebrain, midface, and eye development; severe intellectual disability; heart defects; and small birth size. […] Advanced maternal age increases the likelihood, and the extra chromosome is usually maternally derived. […] The underlying genetic abnormality cannot be cured.

• #57

  https://testbook.com/ias-preparation/patau-syndrome

  Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13. This condition leads to various physical and intellectual disabilities, as well as a shortened life expectancy. […] Patau syndrome is primarily caused by a random error in cell division during the formation of reproductive cells (eggs or sperm). This error leads to an extra copy of chromosome 13 in the fertilized egg, resulting in the development of Patau syndrome in the affected individual. The condition is not inherited from the parents. […] Patau syndrome is a rare genetic disorder caused by an extra copy of chromosome 13.

• #58 Patau Syndrome (Trisomy 13): Understanding the Condition

  https://learn.mapmygenome.in/patau-syndrome-trisomy-13

  Patau Syndrome, also known as Trisomy 13, is a rare genetic disorder that occurs when a baby is born with an extra copy of chromosome 13. […] Trisomy 13, or Patau Syndrome, is caused by the presence of an extra copy of chromosome 13. It is a chromosomal abnormality that occurs during the formation of sperm or egg cells. […] The primary cause of Patau Syndrome is the presence of an extra copy of chromosome 13. This extra genetic material disrupts normal development and leads to the characteristic features of the syndrome. It can occur due to a random event during cell division, either in the egg or sperm cell, or in the early stages of embryonic development. […] Patau Syndrome is not typically inherited from parents. In most cases, it occurs due to a random event during the formation of the egg or sperm cell.

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