title: De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype.
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).
authors.affiliation: Medical Genetics Service, Hôpital Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Tihy
authors.forename: E
authors.initials: E
authors.lastname: Lemyre
authors.forename: N
authors.initials: N
authors.lastname: Lemieux
authors.forename: L
authors.initials: L
authors.lastname: Dallaire
mesh_terms: 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*