A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for CES is curre...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Knijnenburg, Jeroen, van Bever, Yolande, Hulsman, Lorette O M, van Kempen, Chantal A P, Bolman, Galhana M, van Loon, Rosa Laura E, Beverloo, H Berna, van Zutven, Laura J C M
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2012
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3421127/
https://ncbi.nlm.nih.gov/pubmed/22395867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.43
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