An interstitial duplication of the X chr
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F. P. M. Cremers; R. A. Pfeiffer; T. J. R. Pol; M. H. Hofker; T. A. Kruse; B. Wi
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Article
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1987
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Springer
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English
⚖ 718 KB
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 de