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

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.