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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

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.

Keywords

Metabolic Disease Growth Retardation Recombination Event Hybridization Signal Fine Mapping 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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