Article
A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero.
Clinical dysmorphology - 1 Jul 2003
Neas Katherine R, Chia Nicole, Clarke Melanie, Peters Gregory, Adès Lesley C
Abstract excerpt
We describe the phenotypic features in a newborn infant with an unbalanced translocation 46,XY, der(22) inv(4) (p14p16.1) t(4;22) (p15.1;q13.31)pat. The phenotype was consistent with partial trisomy 4p syndrome. Severe bilateral hydronephrosis was diagnosed at a 31 week prenatal ultrasound scan....
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