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.
Similar content being viewed by others
References
Aarskog D (1970) A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77:856–871
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
Coffin GS, Siris E, Wegienk LC (1966) Mental retardation with osteocartilaginous anomalies. Am J Dis Child 112:205–213
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
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
Drayna D, White R (1985) The genetic linkage map of the human X-chromosome. Science 230:753–758
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
Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446
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
McKusick VA (1983) Mendelian inheritance in man, 6th edn. The Johns Hopkins Press, Baltimore
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
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
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
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
Opitz JM, Frias JL, Gutenberger JE, Pellett JR (1969) The G syndrome of multiple congenital anomalies. Birth Defects 5:95–100
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
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
Sohval AR, Soffer LJ (1953) Congenital familial testicular deficiency. Am J Ment Defic 14:328–348
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00591074