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

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 minor facial anatomic anomalies, all con...

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Bibliografske podrobnosti
Main Authors: Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, Fang, Ping, Stankiewicz, Pawel, Cheung, Sau Wai
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2008
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2518151/
https://ncbi.nlm.nih.gov/pubmed/18655707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-1-16
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