title: Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.
abstract: A patient with typical features of the Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome, type II) is described. In the karyotype an interstitial deletion of the long arm of chromosome 8 (band 8q22) was observed as the result of a complex rearrangement of chromosomes 1 and 8: 46,XY inv(8)(q23 leads to q242), del(8)(q221 leads to q223), ins(8;1) (q221;p321 p341;q242). Previously reported cases of Langer-Giedion syndrome with deletion of 8q are compared with the present one.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D013577:Syndrome