Article
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).
American journal of medical genetics - 1 Feb 2001
Zhu G, Gillessen-Kaesbach G, Wirth J, Passarge E, Bartsch O
Abstract excerpt
We describe a three-year-old girl with a triangular face, epicanthus, midfacial hypoplasia, apparently low-set ears, a small mouth with thin vermilion border, and a small chin, hypermobile joints, developmental delay with insecure gait, dystonic movement disorder, speech defect, and a history of unexplained undernutrition. She has a de novo, apparently balanced translocation t(5;10)(q35.2;q11.2). Using...
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