Summary
An insertional translocation into the proximal long arm of the X chromosome in a boy showing muscular hypotony, growth retardation, psychomotor retardation, cryptorchidism, and Pelizaeus-Merzbacher disease (PMD) was identified as a duplication of the Xq21–q22 segment by employing DNA probes. With densitometric scanning for quantitation of hybridization signals, 15 Xq probes were assigned to the duplicated region. Analysis of the duplication allowed us to dissect the X-Y homologous region physically at Xq21 and to refine the assignments of the loci for DXYS5, DXYS12, DXYS13, DXS94, DXS95, DXS96, DXS111, and DXS211. Furthermore, we demonstrated the presence of two different DXYS13, and DXS17 alleles in genomic DNA of our patient, suggesting that the duplication resulted from a meiotic recombination event involving the two maternal X chromosomes.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt SA (1984) A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 36:546–564
Carle GF, Frank M, Olson MV (1986) Electrophoretic separations of large DNA molecules by periodic inversion of the electric field. Science 232:65–68
de la Chapelle A, Sankila EM, Lindlof M, Aula P, Norio R (1985) Norrie discase caused by a gene deletion allowing carrier detection and prenatal diagnosis. Clin Genet 28:317–320
Curry CJR, Magenis RE, Brown M, Lanman JT, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ (1984) Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311:1010–1015
Dautigny A, Mattei M-G, Morello D, Alliel PM, Pham-Dinh D, Amar L, Arnaud D, Simon D, Mattei J-F, Guenet J-L, Avner P (1986) The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice. Nature 321:867–869
Davatelis G, Siniscalco M, Szabo P (1985) Toward a more complete linkage map of the human X-chromosome. (8th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 40:611
Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13
Feinberg AP, Vogelstein B (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 137:266–267
Francke U (1984) Random X-inactivation resulting in mosaic nullisomy of region Xp21.1.-p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet 38:298–307
Gal A, Blecker-Wagemakers EM, Wienker TF, Warburg M, Ropers HH (1985) Localization of the gene for Norrie disease by linkage to the DXS7 locus (8th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 40:633
Gal A, Wieringa B, Smeets DFCM, Bleekers-Wagemakers L, Ropers HH (1986) Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. Cytogenet Cell Genet 42:219–224
Goodfellow PN, Davies KE, Ropers HH (1985) Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet 40:296–352
Kwan S-P, Kunkel L, Bruns G, Wedgwood RJ, Latt S, Rosen FS (1986) Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest 77:649–652
Mattei MG, Alliel PM, Dautigny A, Passage E, Pham-Dinh D, Mattei JF, Jolles P (1986) The gene encoding for the major brain proteolipid (PLP) maps on the q22 band of the human X chromosome. Hum Genet 72:352–353
Mensink EJBM, Thompson A, Schot JDL, van de Greef WMM, Sandkuyl LA, Schuurman RKB (1986) Mapping of the gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. Hum Genet 73:327–332
Naismith Al, Hoffman-Chudzik E, Tsui T-C, Riordan JR (1985) Study of the expression of myelin proteolipid protein (lipophilin) using a cloned complementary DNA. Nucleic Acids Res 13:7413–7425
Ropers HH (1987) Human sex chromosomes: molecular analyses have not yet provided all the answers. Hum Genet (in press)
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Sparkes RS, Salter WJ, Blaker RG, Muller HM (1977) Insertional translocation into the X-chromosome of a 46.XY male. Clin Genet 12:114–118
Steinbach P, Horstmann W, Scholz W (1980) Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation. Hum Genet 54:309–313
Vejerslev LO, Rix M, Jespersen B (1985) Inherited tandem duplication dup(X)(q131–q212) in a male proband. Clin Genet 27:276–281
Wieacker P, Davies KE, Cooke HJ, Pearson PL, Williamson R, Bhattacharya S, Zimmer J, Ropers HH (1984) Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet 36:265–276
Wieringa B, Hustinx TWJ, Scheres J, Renier WO, Haar BGA (1985) Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. Clin Genet 27:522–523
Willard HF, Riordan JR (1985) Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 230:940–942
Schwartz S, Schwartz MF, Panny SR, Peterson CJ, Waters E, Cohen MM (1986) Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error. Am J Hum Genet 38:741–750
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Cremers, F.P.M., Pfeiffer, R.A., van de Pol, T.J.R. et al. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum Genet 77, 23–27 (1987). https://doi.org/10.1007/BF00284707
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00284707