Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus.
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).
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
D005954:Glucosephosphate Dehydrogenase