Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22)

Abstract

Deletion of the long arm of chromosome 8 was found in a mentally retarded boy with typical features of the Langer-Giedion syndrome (TRP syndrome type II). Additional malformations were colobomata of the iris and partial syndactyly of the 4th and 5th fingers.