Summary
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).
References
Chapelle A de la, Schröder J (1972) Apparently non-reciprocal balanced human (3q-;Xq+) translocation: late replication of structurally normal X. In: Wahrman J, Lewis KR (eds) Chromosome today, vol 4. John Wiley and Son, New York, pp 261–265
Cohen MM, Lin CC, Sybert V, Orecchio EJ (1972) Iwo human X-autosome translocations identified by autoradiography and fluorescence. Am J Hum Genet 24:583–597
Edwards JH (1982) Chromosomal abnormalities in mendelian disorders. Lancet II:322–323
Ejima Y, Sasaki MS, Kaneko A, Tanooka H, Hara Y, Hida T, Kinoshita Y (1982) Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma. Clin Genet 21:357–361
Goeminne L (1968) A new probable X-linked inherited syndrome: congenital torticollis, multiple keloids, cryptorchidism and renal dysplasia. Acta Genet Med Gemellol 17:439–467
Haseltine FP, Lynch VA, Van Dyke DL, Roy Breg W, Francke U (1982) H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis. Am J Med Genet 13:115–123
Hellkuhl B, Chapelle A de la, Grzeschik KH (1982) Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. Hum Genet 60:126–129
Hida T, Kinoshita Y, Matsumoto R, Suzuki N, Tanaka H (1982) Bilateral retinoblastoma with a 13q translocation. J Pediatr Ophthalmol Strabismus 17:144–146
Jacobs PA, Hunt PA, Mayer M, Bart RD (1981) 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 33:513–518
McKusick VA (1978) Mendelian inheritance in man. Baltimore, J. Hopkins University Press
Pai GS, Sprenkle JA, Do TT, Mareni CE, Migeon BR (1980) Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphatase dehydrogenase and biochemical evidence of non random X chromosome expression from studies of a human X-autosome translocation. Proc Natl Acad Sci USA 77:2810–2813
Ropers HH, Zuffardi O, Bianchi E, Tiepolo L (1982) Agenesis of corpus callosum, ocular and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with a balanced X/3 translocation. Hum Genet in press
Sands ME (1980) Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosome. Clin Genet 17:309–316
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Zuffardi, O., Fraccaro, M. 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 62, 280–281 (1982). https://doi.org/10.1007/BF00333537
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00333537