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Pericentric inversion causing duplication and deletion of chromosome region 13q22 → qter in the offspring

✍ Scribed by Siddramappa J. Patil; Shubha R. Phadke


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
155 KB
Volume
143A
Category
Article
ISSN
1552-4825

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An interstitial duplication of the X chr
✍ 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