Article
Unbalanced 4;6 translocation and progressive renal disease.
American journal of medical genetics - 27 Nov 2000
Pierpont M E, Hentges A S, Gears L J, Hirsch B, Sinaiko A
Abstract excerpt
Two sibs are described with an unbalanced 4;6 translocation resulting in partial trisomy 6p and monosomy for distal 4p. Growth retardation, psychomotor retardation, and characteristic facial appearance are present. The facial anomalies include high prominent forehead, blepharoptosis, blepharophimosis, high nasal bridge, bulbous nose, long philtrum, small mouth with thin lips, and low-set ears. Both children have...
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