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Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter

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Summary

An Indiana family segregating a syndrome of X-linked mental retardation and skeletal anomalies was tested for linkage of the mutant gene to X-chromosome molecular markers. Lod scores of 3.27 and 3.06 (Θ-0) for the molecular probes St14-1 (DXS52) and Dx13 (DXS15), respectively, indicate that the disease gene is located in the terminal portion of Xq.

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References

  • Aarskog D (1970) A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77:856–871

    Google Scholar 

  • Christian JC, DeMeyer W, Franken EA, Huff JS Khairi S, Reed T (1977) X-linked skeletal dysplasia with mental retardation. Clin Genet 11:128–136

    Google Scholar 

  • Coffin GS, Siris E, Wegienk LC (1966) Mental retardation with osteocartilaginous anomalies. Am J Dis Child 112:205–213

    Google Scholar 

  • Connor JM, Gatherer D, Gray FC, Pirrit LA, Affara NA (1986) Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet 72:348–351

    Google Scholar 

  • Davies KE, Mattei MG, Mattei JF, Veenema H, McGlade S, Harper K, Tommerup N, Nielsen KB, Mikkelsen M, Beighton P, Drayna D, White R, Pembrey ME (1985) Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome). Hum Genet 70:249–255

    Google Scholar 

  • Drayna D, White R (1985) The genetic linkage map of the human X-chromosome. Science 230:753–758

    Google Scholar 

  • Goodfellow PN, Davies KE, Ropers H-H (1985) Report of the committee on the genetic constitution of the X and Y chromosomes. (8th International Workshop on Human Gene Mapping) March of Dimes Birth Defects Foundation. White Plains, NY

    Google Scholar 

  • Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446

    Google Scholar 

  • Madisen L, Hoar DI, Holroyd CD, Crisp M, Hodes ME (1987) DNA banking: the effects of storage of blood or isolated DNA on the integrity of DNA. Am J Med Genet (in press)

  • Maniatas T, Fritsch EF, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY

    Google Scholar 

  • McKusick VA (1983) Mendelian inheritance in man, 6th edn. The Johns Hopkins Press, Baltimore

    Google Scholar 

  • Mulligan LM, Phillips MA, Forster-Gibson CJ, Beckett J, Partington MW, Simpson NE, Holden JJA, White BN (1985) Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3. Am J Hum Genet 37:463–472

    Google Scholar 

  • Oberle I, Drayna D, Camerino G, White R, Mandel JL (1985) The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci USA 82:2824–2828

    Google Scholar 

  • Opitz JM, Kaveggia EG (1974) The FG syndrome: an X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheikd 117:1–18

    Google Scholar 

  • Opitz JM, Sutherland GR (1984) Conference report: International workshop on the fragile X and X-linked mental retardation. Am J Med Genet 17:5–94

    Google Scholar 

  • Opitz JM, Frias JL, Gutenberger JE, Pellett JR (1969) The G syndrome of multiple congenital anomalies. Birth Defects 5:95–100

    Google Scholar 

  • Ott J (1974) Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:773–775

    Google Scholar 

  • Riccardi VM, Hassler E, Lubinsky MS (1977) The FG syndrome: further characterization, report of a third family, and of a sporadic case. Am J Med Genet 1:47–58

    Google Scholar 

  • Sohval AR, Soffer LJ (1953) Congenital familial testicular deficiency. Am J Ment Defic 14:328–348

    Google Scholar 

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Dlouhy, S.R., Christian, J.C., Haines, J.L. et al. Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter. Hum Genet 75, 136–139 (1987). https://doi.org/10.1007/BF00591074

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  • DOI: https://doi.org/10.1007/BF00591074

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