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).
11 references, click to expand
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Chromosomal abnormalities in mendelian disorders.Lancet. 1982 Aug 7;2(8293):322-3 PMID: 6124729
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Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.Proc Natl Acad Sci U S A. 1980 May;77(5):2810-3 PMID: 6930669
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Two human X-autosome translocations identified by autoradiography and fluorescence.Am J Hum Genet. 1972 Sep;24(5):583-97 PMID: 5054227
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H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis.Am J Med Genet. 1982 Oct;13(2):115-23 PMID: 7137226
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Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation.Hum Genet. 1982;60(2):126-9 PMID: 6951798
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Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.Am J Hum Genet. 1981 Jul;33(4):513-8 PMID: 7258185
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Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation.Hum Genet. 1982;61(4):364-8 PMID: 6818132
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Bilateral retinoblastoma with a 13qXp translocation.J Pediatr Ophthalmol Strabismus. 1980 May-Jun;17(3):144-6 PMID: 7391906
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A new probably X-linked inherited syndrome: congenital muscular torticollis, multiple keloids cryptorchidism and renal dysplasia.Acta Genet Med Gemellol (Roma). 1968 Jul;17(3):439-67 PMID: 4387470
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Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma.Clin Genet. 1982 Jun;21(6):357-61 PMID: 7127878
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Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosomes.Clin Genet. 1980 May;17(5):309-16 PMID: 7438488
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