Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).
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.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001859:Bone Neoplasms / Q000235:genetics; D002648:Child; D002812:Chondroma / Q000235:genetics; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities; D008297:Male; D011859:Radiography; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome