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 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).
Tihy
F
F
Medical Genetics Service, Hôpital Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.
Lemyre
E
E
Lemieux
N
N
Dallaire
L
L
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D005260:Female; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics / Q000473:pathology; D012729:Sex Chromosome Aberrations; D014960:X Chromosome / Q000235:genetics*