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Familial 14-Mb deletion at 21q11.2–q21.3 and variable phenotypic expression

✍ Scribed by K. Wakui; A. Toyoda; T. Kubota; E. Hidaka; M. Ishikawa; T. Katsuyama; Y. Sakaki; M. Hattori; Y. Fukushima

Book ID
106252821
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
143 KB
Volume
47
Category
Article
ISSN
1435-232X

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## Abstract Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q an