A case of de novo interstitial deletion 3q.
نویسندگان
چکیده
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, multiple skin pigmentations, and renal abnormalities. The parents had normal karyotypes.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 24 5 شماره
صفحات -
تاریخ انتشار 1987