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Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry

✍ Scribed by Chen, Chih-Ping; Su, Yi-Ning; Lin, Shuan-Pei; Chern, Schu-Rern; Su, Jun-Wei; Chen, Yu-Ting; Lee, Meng-Shan; Wang, Wayseen

Book ID: 122526273
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 549 KB
Volume: 52
Category: Article
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2013.01.015

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We report on an interstitial duplication of the long arm of chromosome 11 [46,XX,dup(11) (q23.3)] in a girl with atypical Rett syndrome (RS). This case was discovered during a systematic cytogenetic study of RS. Fluorescent in situ hybridization including total chromosome painting and use of regiona