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Ann Genet. 1992;35(2):117-20.

Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation.

Annales de genetique

P Sarda, G Lefort, P Devaux, C Humeau, D Rieu

Affiliations

  1. Department of Pediatrics and Medical Genetics, Hôpital Saint-Charles, Montpellier, France.

PMID: 1524409

Abstract

It has been suggested that partial distal 2p2----2pter duplication causes a relatively well defined clinical syndrome, mostly as regards craniofacial dysmorphism, musculoskeletal and genitalia anomalies. Duplications covering a larger portion of 2p i.e. 2p12 or 2p13----2pter are however less documented. The authors report a new case of partial 2p13----2pter duplication which supplies further evidence for short life expectancy due to the large number of malformations in these partial duplications.

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