Pentasomy X
Pentasomy X, also known as 49,XXXXX, is a chromosomal disorder in which a female has five, rather than two, copies of the X chromosome. Pentasomy X is associated with short stature, intellectual disability, characteristic facial features, heart defects, skeletal anomalies, and pubertal and reproductive abnormalities. The condition is exceptionally rare, with an estimated prevalence between 1 in 85,000 and 1 in 250,000.
1963 in science46, XXXXX49,XXXXX49, XXXXX49 xxxxx syndromeAneuploidyAutosomeGender taxonomyIntellectual disabilityList of diseases (0–9)List of diseases (P)List of diseases (X)List of genetic disordersMale reproductive systemPenta XPenta X syndromePentasomy X (old version)PolysomySex chromosome anomaliesTetrasomy XTrisomy XXXXXXXXXXX syndromeXXXXY syndromeXYYY syndromeXY sex-determination systemX chromosome
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Pentasomy X
Pentasomy X, also known as 49,XXXXX, is a chromosomal disorder in which a female has five, rather than two, copies of the X chromosome. Pentasomy X is associated with short stature, intellectual disability, characteristic facial features, heart defects, skeletal anomalies, and pubertal and reproductive abnormalities. The condition is exceptionally rare, with an estimated prevalence between 1 in 85,000 and 1 in 250,000.
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A Síndrome XXXXX, também conhe ...... outras alterações congênitas.
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El síndrome XXXXX (también lla ...... crito por primera vez en 1963.
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La pentasomia X, nota anche co ...... nello sviluppo umano normale.
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Pentasomia chromosomu X, penta ...... zrasta wraz z wiekiem kobiety.
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Pentasomy X, also known as 49, ...... 6 in normal human development.
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Sindrom 49, XXXXX, juga dikena ...... li dijelaskan pada tahun 1963.
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Η πεντασωμία X, επίσης γνωστή ...... ράφηκε για πρώτη φορά το 1963.
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Пентасомия по X-хромосоме (49, ...... я была обнаружена в 1963 году.
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خُماسي الصيغة الصبغية، المعروف ...... شخصت الحالة لأول في عام 1963.
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ICD10
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67,288,406
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1,022,769,513
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Karyotype of pentasomy X
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causes
diagnosis
duration
Lifelong
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ICD
Q97.1
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MeSH
name
Pentasomy X
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onset
Conception
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Orphanet
symptoms
Intellectual disability, facial dysmorphisms, heart defects
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wikiPageUsesTemplate
comment
A Síndrome XXXXX, também conhe ...... ial genético durante a meiose.
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El síndrome XXXXX (también lla ...... crito por primera vez en 1963.
@es
La pentasomia X, nota anche co ...... 1 caso su 85000 e 1 su 250000.
@it
Pentasomia chromosomu X, penta ...... typie i upośledzenie umysłowe.
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Pentasomy X, also known as 49, ...... 1 in 85,000 and 1 in 250,000.
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Sindrom 49, XXXXX, juga dikena ...... gejala dan dikonfirmasi oleh .
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Η πεντασωμία X, επίσης γνωστή ...... τώματα και επιβεβαιώνεται με .
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Пентасомия по X-хромосоме (49, ...... я была обнаружена в 1963 году.
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خُماسي الصيغة الصبغية، المعروف ...... ض، ويؤكده التحليل الكروموسومي.
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label
Pentasomia X
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Pentasomia chromosomu X
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Pentasomy X
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Poly-X-Syndrom
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Sindrom 49, XXXXX
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Síndrome XXXXX
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Síndrome XXXXX
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XXXXX 증후군
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Πεντασωμία Χ
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Пентасомия по X-хромосоме
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