Zespół trisomii x
Rokowania, prognozy i postęp choroby
Zespół trisomii X (47,XXX) charakteryzuje się zróżnicowanym przebiegiem klinicznym, z przeciętnym IQ obniżonym o około 20 punktów, szczególnie w zakresie funkcji werbalnych. Wczesna diagnostyka i interwencja są kluczowe dla minimalizacji opóźnień rozwojowych, zwłaszcza w zakresie mowy i funkcji poznawczych. Badania neuroobrazowe wykazały zmniejszoną całkowitą objętość mózgu oraz asymetryczne powiększenie komór mózgowych, co wskazuje na wpływ dodatkowego chromosomu X na rozwój mózgu. Adaptacja psychospołeczna jest zazwyczaj zadowalająca, choć kobiety z trisomią X wykazują większe trudności w okresie dojrzewania i wczesnej dorosłości, w tym obniżone IQ, większy stres oraz wyższe ryzyko zaburzeń psychopatologicznych, w tym chorób psychotycznych o charakterze paranoidalnym. Średnia długość życia wynosi około 71 lat dla pełnej trisomii X i 78 lat dla mozaikowatości, w porównaniu do 84 lat w populacji ogólnej. Występuje także zwiększona częstość przedwczesnej niewydolności jajników oraz deformacji kręgosłupa, takich jak kifoza piersiowa (15/33), krótka szyja (10/33) i skolioza (5/33).
Prognozy dla zespołu trisomii X
Zespół trisomii X (47,XXX) charakteryzuje się zróżnicowanym rokowaniem, które w dużej mierze zależy od nasilenia objawów oraz czasu rozpoczęcia i jakości leczenia. Ogólna prognoza dla większości osób z trisomią X jest korzystna, choć mogą występować pewne trudności rozwojowe i zdrowotne.12
Dla wielu osób zespół trisomii X nie ma znaczącego wpływu na ich życie. Wczesna diagnostyka i interwencja mogą znacząco zmniejszyć wpływ opóźnień rozwojowych. Dzieci powinny być poddawane regularnym badaniom kontrolnym, a ich wzrost i postępy powinny być monitorowane. Ze względu na dużą zmienność objawów, zaleca się kompleksową ocenę w celu określenia indywidualnych potrzeb.3
Oczekiwana długość życia
Sam zespół trisomii X nie ma istotnego wpływu na długość życia, choć niektóre powiązane schorzenia mogą mieć znaczenie. Dane z duńskiego Centralnego Rejestru Cytogenetycznego, obejmującego 13% kobiet z trisomią X w Danii, sugerują średnią długość życia wynoszącą 71 lat dla kobiet z pełną trisomią X i 78 lat dla kobiet z mozaikowatością, w porównaniu do 84 lat w grupie kontrolnej.45
Rozwój i funkcjonowanie intelektualne
U osób z zespołem trisomii X poziom IQ jest średnio o 20 punktów niższy niż w grupie kontrolnej, przy czym IQ werbalne jest najniższe. Najmłodsze przypadki mogą cierpieć z powodu opóźnienia rozwoju mowy, co może tłumaczyć niektóre problemy w tworzeniu stabilnych relacji międzyludzkich.67
Badania prowadzone przez grupy z Edynburga i Denver wykazały mniejszą całkowitą objętość mózgu oraz większe i asymetryczne komory mózgowe, co sugeruje wpływ dodatkowego chromosomu X na rozwój mózgu.8
Adaptacja psychospołeczna
Adaptacja psychospołeczna jest zazwyczaj zadowalająca – w jednym z badań u 25 z 37 pacjentek nie wykazano problemów behawioralnych. Kobiety z 47,XXX dłużej pozostają zależne od wsparcia rodzicielskiego niż ich rodzeństwo. Grupa z Denver opisała występowanie trudności w uczeniu się, zaburzeń językowych i motorycznych u młodych dorosłych. Nieselektywna grupa kobiet z 47,XXX w okresie dojrzewania i wczesnej dorosłości wykazywała gorszą adaptację, większy stres, więcej problemów z pracą, wypoczynkiem i relacjami, niższe IQ oraz więcej objawów psychopatologicznych w porównaniu z grupą kontrolną.910
Jakość życia wydaje się poprawiać po zakończeniu edukacji. Większość kobiet z trisomią X znajduje pracę, która odzwierciedla ich zdolności wykonawcze.1112
Edukacja i zatrudnienie
W zakresie edukacji, większość (22 z 37) osób z trisomią X uczęszczała na zajęcia specjalne w szkole średniej, 7 z 37 przerwało naukę w szkole średniej, a 3 z 37 uczęszczało na studia wyższe. Pomimo tych wyzwań, większość dorosłych osiąga normalne wyniki życiowe, kontynuując edukację, podejmując zatrudnienie lub prowadząc gospodarstwo domowe.1314
Problemy zdrowotne i rozwój płciowy
U dorosłych kobiet z trisomią X przedwczesna niewydolność jajników wydaje się występować częściej niż w grupie kontrolnej. Istnieją również doniesienia o zwiększonej częstości występowania kifozy piersiowej (15 z 33 przypadków), krótkiej szyi (10 z 33 przypadków) i skoliozy (5 z 33 przypadków).1516
Mimo to, większość dziewcząt z zespołem trisomii X może dorastać zdrowo, mieć normalny rozwój płciowy i płodność oraz prowadzić produktywne życie. Przy odpowiedniej opiece medycznej, wczesnej interwencji i ciągłym wsparciu, dziewczyna z zespołem trisomii X może prowadzić normalne, zdrowe i produktywne życie.17
Zdrowie psychiczne
Choroby psychotyczne wydają się być bardziej rozpowszechnione u dorosłych kobiet z trisomią X niż w grupie kontrolnej. Większość opisanych pacjentek z trisomią X z zaburzeniami psychotycznymi wykazuje objawy paranoidalne. Potrzebne są dalsze badania, aby ustalić, czy może to (częściowo) wyjaśniać występowanie objawów paranoidalnych u kobiet z trisomią X z psychozą.1819
Różnice w rokowaniu w zależności od momentu diagnozy
Kobiety z trisomią X, które zostały zdiagnozowane prenatalnie, mają lepsze wyniki jako grupa niż te zdiagnozowane postnatalnie, a mozaiki 46,XX/47,XXX mają lepsze rokowanie niż osoby z pełną trisomią X.20
Znaczenie dostarczania rodzicom dokładnych informacji o częstości występowania diagnozy i zmienności stanu na podstawie wyników z nieobciążonych badań populacyjnych dotyczących konkretnej aberracji chromosomowej nie może być przeceniane. Badania wykazały, że 36% prenatalnie zdiagnozowanych trisomii chromosomów płciowych kończy się terminacją ciąży (TOPFA).21
Wyzwania w diagnostyce prenatalnej
Diagnostyka prenatalna i poradnictwo mogą być trudne, szczególnie przy braku charakterystycznych wzorców echograficznych dla aberracji chromosomowych, co ogranicza możliwość określenia prognozy przy urodzeniu. Wczesne ograniczenie wzrostu płodu i zwiększony fałd karkowy, związane z zaawansowanym wiekiem matki, mogą sugerować potrzebę wykonania kariotypu płodu w celu dalszych badań.2223
Biorąc pod uwagę brak korelacji między zaawansowanym wiekiem matki a zwiększonym ryzykiem aberracji chromosomowych płci oraz brak typowych objawów echograficznych, należy rozważyć włączenie nieinwazyjnego testu prenatalnego (NIPT), który rozszerza zakres kliniczny o chromosomy X i Y, jako rutynowego narzędzia diagnostyki prenatalnej, a także wykorzystanie trójwymiarowego USG do wykrywania pomocnych prognostycznych objawów echograficznych.2425
Znaczenie badań naukowych
Badania nad zespołem trisomii X mogą przynieść więcej informacji na temat relacji między mózgiem a zachowaniem, psychopatologii rozwojowej, zaburzeń przetwarzania słuchowego, zaburzeń EEG, zaburzeń osobowości i psychotycznych, itp. Warto zauważyć, że badania z programów badań przesiewowych noworodków nie obejmowały zapisów EEG.2627
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Materiały źródłowe
- #1 Trisomy X – Wikipediahttps://en.wikipedia.org/wiki/Trisomy_X
The prognosis of trisomy X is broadly good, with adult independence most often achieved, if delayed. Most adults achieve normal life outcomes, pursuing education, employment, or homemaking. […] Women with trisomy X who were diagnosed prenatally have better outcomes as a group than those diagnosed postnatally, and 46,XX/47,XXX mosaics better than those with full trisomy X. […] Data from the Danish Cytogenetic Central Register, which covers 13% of women with trisomy X in Denmark, suggests a life expectancy of 71 for women with full trisomy X and 78 for mosaics, compared to 84 for controls.
- #2 Orphanet: Trisomy X syndromehttps://www.orpha.net/en/disease/detail/3375
The prognosis is variable and depends on the severity of the manifestations and as well as the quality and timing of treatment.
- #3 Triple X Syndrome: Causes, Diagnosis & Treatmenthttps://my.clevelandclinic.org/health/diseases/17892-triple-x-syndrome
For many people, triple X syndrome doesn’t have a huge impact on their lives. In general, early diagnosis and intervention can help to reduce the impact of developmental delays. Children should have regular medical checkups and their growth and progress should be monitored. Since symptoms can vary widely, you should get a comprehensive evaluation to determine your specific needs. […] Triple X syndrome doesn’t really impact life expectancy, but some of the related conditions may. For the most part, people with triple X syndrome live as long as those with two X chromosomes.
- #4 Trisomy X – Wikipediahttps://en.wikipedia.org/wiki/Trisomy_X
The prognosis of trisomy X is broadly good, with adult independence most often achieved, if delayed. Most adults achieve normal life outcomes, pursuing education, employment, or homemaking. […] Women with trisomy X who were diagnosed prenatally have better outcomes as a group than those diagnosed postnatally, and 46,XX/47,XXX mosaics better than those with full trisomy X. […] Data from the Danish Cytogenetic Central Register, which covers 13% of women with trisomy X in Denmark, suggests a life expectancy of 71 for women with full trisomy X and 78 for mosaics, compared to 84 for controls.
- #5 Triple X Syndrome: Causes, Diagnosis & Treatmenthttps://my.clevelandclinic.org/health/diseases/17892-triple-x-syndrome
For many people, triple X syndrome doesn’t have a huge impact on their lives. In general, early diagnosis and intervention can help to reduce the impact of developmental delays. Children should have regular medical checkups and their growth and progress should be monitored. Since symptoms can vary widely, you should get a comprehensive evaluation to determine your specific needs. […] Triple X syndrome doesn’t really impact life expectancy, but some of the related conditions may. For the most part, people with triple X syndrome live as long as those with two X chromosomes.
- #6 Triple X syndrome: a review of the literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/
The developmental and clinical aspects in the literature on triple X syndrome are reviewed. […] The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc. […] Quality of life seems to increase after leaving school. […] The youngest cases seem to suffer from a delay in language development. […] This might explain some of the problems in forming stable interpersonal relationships.
- #7 Triple X syndrome: a review of the literature | European Journal of Human Geneticshttps://www.nature.com/articles/ejhg2009109
The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] The 47,XXX women most often find jobs that reflect their performance abilities. […] Quality of life seems to increase after leaving school. […] The psychosocial adaptation seemed to be reasonably good, with 25 of 37 showing no behavioural problems. […] The majority (22 of 37) attended special education classes in high school, 7 of 37 dropped out of high school and 3 of 37 attended college. […] The Denver group described the occurrence of learning disabilities, language disorders and motor disorders in young adults: The (unselected) 47,XXX women during adolescence and young adulthood were less well adapted; had more stress; had more work, leisure and relationship problems; had a lower IQ; and showed more psychopathology when contrasted with the comparison group.
- #8 Triple X syndrome: a review of the literature | European Journal of Human Geneticshttps://www.nature.com/articles/ejhg2009109
After the fourth international meeting on the newborn-screening studies, the research groups from Edinburgh and Denver continued the follow-up. […] Both research groups carried out MRI studies of the brain in the newborn-screening group. Lower total brain volumes and larger and asymmetric ventricles were reported as developmental effects of the extra X chromosome on brain development. […] Olanders described an increased prevalence of thoracic kyphosis in 15 of 33 cases, a short neck in 10 of 33 cases and scoliosis in 5 of 33 cases. […] Premature ovarian failure probably does exceed the population risk. […] The newborn-screening studies did not involve EEG recordings. […] Most of the published triple X patients with psychotic disorders show paranoid symptoms. […] Further research is necessary to know whether this may (partially) explain the prevalence of paranoid symptoms in psychotic triple X women.
- #9 Triple X syndrome: a review of the literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/
The psychosocial adaptation seemed to be reasonably good, with 25 of 37 showing no behavioural problems. […] The 47,XXX women depended longer on parental support than did their siblings. […] After the fourth international meeting on the newborn-screening studies, the research groups from Edinburgh and Denver continued the follow-up. […] The newborn-screening studies did not involve EEG recordings. […] Most of the published triple X patients with psychotic disorders show paranoid symptoms. […] Further research is necessary to know whether this may (partially) explain the prevalence of paranoid symptoms in psychotic triple X women.
- #10 Triple X syndrome: a review of the literature | European Journal of Human Geneticshttps://www.nature.com/articles/ejhg2009109
The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] The 47,XXX women most often find jobs that reflect their performance abilities. […] Quality of life seems to increase after leaving school. […] The psychosocial adaptation seemed to be reasonably good, with 25 of 37 showing no behavioural problems. […] The majority (22 of 37) attended special education classes in high school, 7 of 37 dropped out of high school and 3 of 37 attended college. […] The Denver group described the occurrence of learning disabilities, language disorders and motor disorders in young adults: The (unselected) 47,XXX women during adolescence and young adulthood were less well adapted; had more stress; had more work, leisure and relationship problems; had a lower IQ; and showed more psychopathology when contrasted with the comparison group.
- #11 Triple X syndrome: a review of the literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/
The developmental and clinical aspects in the literature on triple X syndrome are reviewed. […] The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc. […] Quality of life seems to increase after leaving school. […] The youngest cases seem to suffer from a delay in language development. […] This might explain some of the problems in forming stable interpersonal relationships.
- #12 Triple X syndrome: a review of the literature | European Journal of Human Geneticshttps://www.nature.com/articles/ejhg2009109
The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] The 47,XXX women most often find jobs that reflect their performance abilities. […] Quality of life seems to increase after leaving school. […] The psychosocial adaptation seemed to be reasonably good, with 25 of 37 showing no behavioural problems. […] The majority (22 of 37) attended special education classes in high school, 7 of 37 dropped out of high school and 3 of 37 attended college. […] The Denver group described the occurrence of learning disabilities, language disorders and motor disorders in young adults: The (unselected) 47,XXX women during adolescence and young adulthood were less well adapted; had more stress; had more work, leisure and relationship problems; had a lower IQ; and showed more psychopathology when contrasted with the comparison group.
- #13 Triple X syndrome: a review of the literature | European Journal of Human Geneticshttps://www.nature.com/articles/ejhg2009109
The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] The 47,XXX women most often find jobs that reflect their performance abilities. […] Quality of life seems to increase after leaving school. […] The psychosocial adaptation seemed to be reasonably good, with 25 of 37 showing no behavioural problems. […] The majority (22 of 37) attended special education classes in high school, 7 of 37 dropped out of high school and 3 of 37 attended college. […] The Denver group described the occurrence of learning disabilities, language disorders and motor disorders in young adults: The (unselected) 47,XXX women during adolescence and young adulthood were less well adapted; had more stress; had more work, leisure and relationship problems; had a lower IQ; and showed more psychopathology when contrasted with the comparison group.
- #14 Trisomy X – Wikipediahttps://en.wikipedia.org/wiki/Trisomy_X
The prognosis of trisomy X is broadly good, with adult independence most often achieved, if delayed. Most adults achieve normal life outcomes, pursuing education, employment, or homemaking. […] Women with trisomy X who were diagnosed prenatally have better outcomes as a group than those diagnosed postnatally, and 46,XX/47,XXX mosaics better than those with full trisomy X. […] Data from the Danish Cytogenetic Central Register, which covers 13% of women with trisomy X in Denmark, suggests a life expectancy of 71 for women with full trisomy X and 78 for mosaics, compared to 84 for controls.
- #15 Triple X syndrome: a review of the literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/
The developmental and clinical aspects in the literature on triple X syndrome are reviewed. […] The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc. […] Quality of life seems to increase after leaving school. […] The youngest cases seem to suffer from a delay in language development. […] This might explain some of the problems in forming stable interpersonal relationships.
- #16 Triple X syndrome: a review of the literature | European Journal of Human Geneticshttps://www.nature.com/articles/ejhg2009109
After the fourth international meeting on the newborn-screening studies, the research groups from Edinburgh and Denver continued the follow-up. […] Both research groups carried out MRI studies of the brain in the newborn-screening group. Lower total brain volumes and larger and asymmetric ventricles were reported as developmental effects of the extra X chromosome on brain development. […] Olanders described an increased prevalence of thoracic kyphosis in 15 of 33 cases, a short neck in 10 of 33 cases and scoliosis in 5 of 33 cases. […] Premature ovarian failure probably does exceed the population risk. […] The newborn-screening studies did not involve EEG recordings. […] Most of the published triple X patients with psychotic disorders show paranoid symptoms. […] Further research is necessary to know whether this may (partially) explain the prevalence of paranoid symptoms in psychotic triple X women.
- #17 Triple X Syndrome (for Parents) | Nemours KidsHealthhttps://kidshealth.org/en/parents/triple-x-syndrome.html
Most girls with triple X syndrome can grow up healthy, have normal sexual development and fertility, and lead productive lives. […] Despite physical differences and other problems, with the right medical care, early intervention, and ongoing support, a girl with triple X syndrome can lead a normal, healthy, and productive life.
- #18 Triple X syndrome: a review of the literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/
The developmental and clinical aspects in the literature on triple X syndrome are reviewed. […] The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc. […] Quality of life seems to increase after leaving school. […] The youngest cases seem to suffer from a delay in language development. […] This might explain some of the problems in forming stable interpersonal relationships.
- #19 Triple X syndrome: a review of the literature | European Journal of Human Geneticshttps://www.nature.com/articles/ejhg2009109
After the fourth international meeting on the newborn-screening studies, the research groups from Edinburgh and Denver continued the follow-up. […] Both research groups carried out MRI studies of the brain in the newborn-screening group. Lower total brain volumes and larger and asymmetric ventricles were reported as developmental effects of the extra X chromosome on brain development. […] Olanders described an increased prevalence of thoracic kyphosis in 15 of 33 cases, a short neck in 10 of 33 cases and scoliosis in 5 of 33 cases. […] Premature ovarian failure probably does exceed the population risk. […] The newborn-screening studies did not involve EEG recordings. […] Most of the published triple X patients with psychotic disorders show paranoid symptoms. […] Further research is necessary to know whether this may (partially) explain the prevalence of paranoid symptoms in psychotic triple X women.
- #20 Trisomy X – Wikipediahttps://en.wikipedia.org/wiki/Trisomy_X
The prognosis of trisomy X is broadly good, with adult independence most often achieved, if delayed. Most adults achieve normal life outcomes, pursuing education, employment, or homemaking. […] Women with trisomy X who were diagnosed prenatally have better outcomes as a group than those diagnosed postnatally, and 46,XX/47,XXX mosaics better than those with full trisomy X. […] Data from the Danish Cytogenetic Central Register, which covers 13% of women with trisomy X in Denmark, suggests a life expectancy of 71 for women with full trisomy X and 78 for mosaics, compared to 84 for controls.
- #21 Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy | European Journal of Human Geneticshttps://www.nature.com/articles/ejhg2010148
This study showed a prevalence of SCTs diagnosed prenatally or in the first year of life of 1.88 per 10000 birth, representing approximately 12% of the expected prevalence. […] The importance of providing parents with accurate information about the frequency of the diagnosis and the variability of the condition on the basis of outcomes from unbiased population-based follow-up studies on the specific chromosome abnormality cannot be over emphasized. […] A total of 415 cases (89%) were diagnosed prenatally at a median gestation of 16 weeks, of which 151 (36%) resulted in TOPFA. […] This study found that 36% of prenatally diagnosed SCTs result in TOPFA.
- #22 A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC4325205/
Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. […] The influence of the mother’s age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs. […] Our case shows how prenatal counselling could be difficult: the absence of indicative echographic patterns for chromosomal abnormalities limits the definition of prognosis at birth.
- #23 A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC4325205/
It remains difficult to plan obstetric and gynecological counselling to identify which cases require genetic counselling and fetal karyotype. […] An early restriction of the fetal growth and an increased nuchal fold associated with an advanced maternal age could suggest referral to a fetal karyotype for further investigation. […] Considering that there is no correlation between advanced maternal age and increased risk for pentasomy X and the absence of typical echographic signs of this syndrome, the need to include a noninvasive prenatal test (NIPT), which expands clinical coverage to include the X and Y chromosomes in routinary prenatal diagnosis as molecular noninvasive tool, and three-dimensional ultrasound to detect any helpful indicative echographic prognostic signs should be evaluated.
- #24 A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC4325205/
Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. […] The influence of the mother’s age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs. […] Our case shows how prenatal counselling could be difficult: the absence of indicative echographic patterns for chromosomal abnormalities limits the definition of prognosis at birth.
- #25 A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC4325205/
It remains difficult to plan obstetric and gynecological counselling to identify which cases require genetic counselling and fetal karyotype. […] An early restriction of the fetal growth and an increased nuchal fold associated with an advanced maternal age could suggest referral to a fetal karyotype for further investigation. […] Considering that there is no correlation between advanced maternal age and increased risk for pentasomy X and the absence of typical echographic signs of this syndrome, the need to include a noninvasive prenatal test (NIPT), which expands clinical coverage to include the X and Y chromosomes in routinary prenatal diagnosis as molecular noninvasive tool, and three-dimensional ultrasound to detect any helpful indicative echographic prognostic signs should be evaluated.
- #26 Triple X syndrome: a review of the literaturehttps://pmc.ncbi.nlm.nih.gov/articles/PMC2987225/
The developmental and clinical aspects in the literature on triple X syndrome are reviewed. […] The IQ levels are 20 points below that of controls, and verbal IQ is lowest. […] In adults, premature ovarian failure seems to be more prevalent than in controls. […] Psychotic illness seems to be more prevalent in triple X adult women than in controls. […] Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc. […] Quality of life seems to increase after leaving school. […] The youngest cases seem to suffer from a delay in language development. […] This might explain some of the problems in forming stable interpersonal relationships.
- #27 Triple X syndrome: a review of the literature | European Journal of Human Geneticshttps://www.nature.com/articles/ejhg2009109
After the fourth international meeting on the newborn-screening studies, the research groups from Edinburgh and Denver continued the follow-up. […] Both research groups carried out MRI studies of the brain in the newborn-screening group. Lower total brain volumes and larger and asymmetric ventricles were reported as developmental effects of the extra X chromosome on brain development. […] Olanders described an increased prevalence of thoracic kyphosis in 15 of 33 cases, a short neck in 10 of 33 cases and scoliosis in 5 of 33 cases. […] Premature ovarian failure probably does exceed the population risk. […] The newborn-screening studies did not involve EEG recordings. […] Most of the published triple X patients with psychotic disorders show paranoid symptoms. […] Further research is necessary to know whether this may (partially) explain the prevalence of paranoid symptoms in psychotic triple X women.