title: Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus.
abstract: The syndrome of torticollis, keloids, cryptorchidism and renal dysplasia was described by Goeminne (1968) in a large family, and listed as X-linked incomplete dominant by McKusick (1978; No. 31430). We mapped the locus on the long arm of the X chromosome at band q28 and distal to the G6PD locus. This was achieved by the chance discovery in the literature that two females, each with a balanced X/autosome translocation involving Xq28, had partial manifestation of the syndrome as was the case with the females in the larger family of Goeminne (1968).
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D003456:Cryptorchidism / Q000235:genetics; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D007627:Keloid / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D012730:Sex Chromosomes; D013577:Syndrome; D014103:Torticollis / Q000235:genetics; D014178:Translocation, Genetic; D014960:X Chromosome
chemical_list: D005954:Glucosephosphate Dehydrogenase