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

Hum Genet. 1982;62(3):280-1. doi: 10.1007/BF00333537.

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

  • Abnormalities, Multiple / genetics*
  • Chromosome Mapping*
  • Cryptorchidism / genetics
  • Female
  • Glucosephosphate Dehydrogenase / genetics*
  • Humans
  • Keloid / genetics
  • Kidney / abnormalities
  • Sex Chromosomes*
  • Syndrome
  • Torticollis / genetics
  • Translocation, Genetic*
  • X Chromosome*

Substances

  • Glucosephosphate Dehydrogenase