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  • Title: De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype.
    Author: Tihy F, Lemyre E, Lemieux N, Dallaire L.
    Journal: Am J Med Genet; 1999 Dec 03; 87(4):302-5. PubMed ID: 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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