A case of 49,XXXXX in which the extra X chromosomes were maternal in origin

Journal of Clinical Pathology
Y G ChoS I Choi

Abstract

This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental retardation, a cleft palate, mild hydrocephalus as a result of dilatation of both lateral ventricles, hyperextensible elbow joints, proximal radioulnar synostosis, clinodactyly of the fifth finger, valgus of the feet, and small hands and feet. In addition, she has a persistent pupillary membrane and congenital chorioretinal atrophy. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non-dysjunctions.

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Citations

Aug 13, 2008·Journal of Orthopaedic Science : Official Journal of the Japanese Orthopaedic Association·Toshiko NishimuraAtsumasa Uchida
Oct 9, 2009·Molecular Cytogenetics·Lucia M MoraesHéctor N Seuánez
Nov 29, 2011·Clinics in Laboratory Medicine·Xu Li
May 23, 2012·The Journal of Obstetrics and Gynaecology Research·Pinar Caglar AytacFeride I Sahin
Feb 24, 2015·Case Reports in Obstetrics and Gynecology·Linda Maria Azzurra PirolloAdalgisa Pietropolli
Mar 2, 2016·Balkan Journal of Medical Genetics : BJMG·O DemirhanO Dur
May 30, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Yongjia YangYimin Zhu
Jul 7, 2017·Clinical Case Reports·Sara MarkholtAnne-Bine Skytte
Aug 10, 2021·Curēus·Nabila ChekhlabiNezha Dini

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