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De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype
1Medical Genetics Service, Hôpital Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.
American Journal of Medical Genetics
|December 10, 1999
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).