Tentative assignment of piebald trait gene to chromosome band 4q12.
A case of de novo del(4)(q12q21.1) is presented. Three of four patients with comparable deletion show abnormal integumentary pigmentation, which is compatible with the known autosomal dominantly inherited piebald trait. Further analysis of breakpoints of five cases with proximal interstitial 4q deletion suggests the possible localization of the piebald trait gene within the band 4q12.
D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002905:Chromosomes, Human, 4-5; D006801:Humans; D007621:Karyotyping; D008297:Male; D010859:Pigmentation Disorders / Q000235:genetics*; D012880:Skin Pigmentation