Trisomy 9 mosaicism.
The first live-born female with trisomy 9 mosaicism is reported. This patient, like four others in the literature, has a characteristic face with narrowed temples, enophthalmus, large nose and pouched cheeks, as well as skeletal abnormalities of the extremities, including hip dislocation, limited joint mobility and bone hypoplasia.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D014314:Trisomy