De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype.
Am J Med Genet
; 87(4): 302-5, 1999 Dec 03.
Article
em En
| MEDLINE
| ID: mdl-10588834
ABSTRACT
Duplication of a portion of Xq has been observed in males with abnormalities. In some cases, their mothers or even grandmothers had the same duplication but did not show any phenotypic abnormalities. However, a few cases of females with a de novo Xq duplication do present some abnormalities. We describe a 16-month-old girl with short stature, motor delay with hypotonia, scoliosis, right hemiatrophy, and ptosis of the right eye, with an Xq duplication. The duplicated region is read dir dup(X)(q22.1q25).
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Base de dados:
MEDLINE
Assunto principal:
Aberrações dos Cromossomos Sexuais
/
Cromossomo X
Limite:
Adult
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Canadá