Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation

An interstitial duplication of the X chr

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. Pol; M. H. Hofker; T. A. Kruse; B. Wi 📂 Article 📅 1987 🏛 Springer 🌐 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