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

Duplication of a portion of Xq has been observed in males with abnormalitie s. In some cases, their mothers or even grandmothers had the same duplicati on but did not show any phenotypic abnormalities. However, a few cases of f emales with a de novo Xq duplication do present some abnormalities, We desc ribe a 16-month-old girl with short stature, motor delay with hypotonia, sc oliosis, right hemiatrophy, and ptosis of the right eye, with an Xq duplica tion. The duplicated region is read dir dup(X)(q22.1q25). (C) 1999 Wiley-Li ss, Inc.