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A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero
Katherine R Neas1, Nicole Chia, Melanie Clarke
1Department of Clinical Genetics, The Children's Hospital at Westmead, NSW, Australia. kathern2@chw.edu.au
Abstract:
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. Both the patient phenotype and the partial trisomy are unusual, the latter due to the complex nature of the chromosomal rearrangement.
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