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Clin Dysmorphol. 2003 Jul;12(3):179-81.

A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero.

Author information

  • 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.

PMID:
14564156
[PubMed - indexed for MEDLINE]
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