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Article

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

American journal of medical genetics - 3 Dec 1999

Tihy F, Lemyre E, Lemieux N, Dallaire L

Abstract excerpt

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...

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PMID: 10588834

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