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De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype

✍ Scribed by Tihy, Fr�d�rique; Lemyre, Emmanuelle; Lemieux, Nicole; Dallaire, Louis

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 37 KB
Volume: 87
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991203)87:4<302::aid-ajmg4>3.0.co;2-d

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✦ Synopsis

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). Am. J. Med. Genet. 87:302-305, 1999.

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