A case of 49,XXXXX in which the extra X chromosomes were maternal in origin.
J Clin Pathol
; 57(9): 1004-6, 2004 Sep.
Article
em En
| MEDLINE
| ID: mdl-15333671
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Transtornos dos Cromossomos Sexuais
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Cromossomos Humanos X
Limite:
Female
/
Humans
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Infant
Idioma:
En
Revista:
J Clin Pathol
Ano de publicação:
2004
Tipo de documento:
Article