Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

<p>Abstract</p> <p>We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient presented with failure to thrive, muscular hypotonia, and min...

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Bibliographic Details
Main Authors: Fang Ping, Brown Chester W, Yatsenko Svetlana A, Peacock Sandra, Ou Zhishuo, Cooper M Lance, Shchelochkov Oleg A, Stankiewicz Pawel, Cheung Sau
Format: Article
Language:English
Published: BMC 2008-07-01
Series:Molecular Cytogenetics
Online Access:http://www.molecularcytogenetics.org/content/1/1/16