Human Genetics

, Volume 77, Issue 1, pp 23–27 | Cite as

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

  • F. P. M. Cremers
  • R. A. Pfeiffer
  • T. J. R. van de Pol
  • M. H. Hofker
  • T. A. Kruse
  • B. Wieringa
  • H. H. Ropers
Original Investigations


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.


Metabolic Disease Growth Retardation Recombination Event Hybridization Signal Fine Mapping 
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  1. 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 36:546–564Google Scholar
  2. Carle GF, Frank M, Olson MV (1986) Electrophoretic separations of large DNA molecules by periodic inversion of the electric field. Science 232:65–68Google Scholar
  3. 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 28:317–320Google Scholar
  4. 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 311:1010–1015Google Scholar
  5. 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 321:867–869Google Scholar
  6. 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 40:611Google Scholar
  7. Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13Google Scholar
  8. Feinberg AP, Vogelstein B (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 137:266–267Google Scholar
  9. 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 38:298–307Google Scholar
  10. 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 40:633Google Scholar
  11. 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 42:219–224Google Scholar
  12. Goodfellow PN, Davies KE, Ropers HH (1985) Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet 40:296–352Google Scholar
  13. 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 77:649–652Google Scholar
  14. 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 72:352–353Google Scholar
  15. 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 73:327–332Google Scholar
  16. 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 13:7413–7425Google Scholar
  17. Ropers HH (1987) Human sex chromosomes: molecular analyses have not yet provided all the answers. Hum Genet (in press)Google Scholar
  18. Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517Google Scholar
  19. Sparkes RS, Salter WJ, Blaker RG, Muller HM (1977) Insertional translocation into the X-chromosome of a 46.XY male. Clin Genet 12:114–118Google Scholar
  20. 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 54:309–313Google Scholar
  21. Vejerslev LO, Rix M, Jespersen B (1985) Inherited tandem duplication dup(X)(q131–q212) in a male proband. Clin Genet 27:276–281Google Scholar
  22. 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 36:265–276Google Scholar
  23. Wieringa B, Hustinx TWJ, Scheres J, Renier WO, Haar BGA (1985) Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. Clin Genet 27:522–523Google Scholar
  24. Willard HF, Riordan JR (1985) Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 230:940–942Google Scholar
  25. 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 38:741–750Google Scholar

Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • F. P. M. Cremers
    • 1
  • R. A. Pfeiffer
    • 2
  • T. J. R. van de Pol
    • 1
  • M. H. Hofker
    • 3
  • T. A. Kruse
    • 4
  • B. Wieringa
    • 1
  • H. H. Ropers
    • 1
  1. 1.Department of Human GeneticsCatholic University of NijmegenNijmegenThe Netherlands
  2. 2.Institut für Humangenetik und Anthropologie der Universität Erlangen-NürnbergErlangenFederal Republic of Germany
  3. 3.Department of Human GeneticsState UniversityLeidenThe Netherlands
  4. 4.Institute of Human GeneticsUniversity of AarhusAarhusDenmark

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