Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).
Two cases of the Langer-Giedion syndrome (LGS) are reported. Chromosome analysis by high-resolution banding with 850 bands revealed the same abnormal karyotype, 46,XY or XX,del(8)(q23.3q24.13), which was the smallest deletion among those of LGS patients with 8q deletion. The deleted segments found in three patients with LGS analyzed by high-resolution banding have a part of 8q23.3 and 8q24.11 in common.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D013577:Syndrome