An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region |
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| Authors: | F P M Cremers R A Pfeiffer T J R van de Pol M H Hofker T A Kruse B Wieringa H H Ropers |
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| Institution: | (1) Department of Human Genetics, Catholic University of Nijmegen, Geert Grooteplein Z 20, Postbus 9101, NL-6500 HB Nijmegen, The Netherlands;(2) Institut für Humangenetik und Anthropologie der Universität Erlangen-Nürnberg, Schwabachanlage 10, D-8520 Erlangen, Federal Republic of Germany;(3) Department of Human Genetics, State University, NL-2300 RA Leiden, The Netherlands;(4) Institute of Human Genetics, University of Aarhus, DK-8000 Aarhus, Denmark |
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| Abstract: | 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. |
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