Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2).

作者信息

Bertini Veronica, Battini Roberta, Cioni Giovanni, Simi Paolo, Valetto Angelo

机构信息

Cytogenetics and Molecular Genetics Unit, Children Department, AOU Pisana, Ospedale S. Chiara, Pisa, Italy.

出版信息

Am J Med Genet A. 2010 Feb;152A(2):490-4. doi: 10.1002/ajmg.a.33233.

DOI:10.1002/ajmg.a.33233

PMID:20101678

Abstract

摘要

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引用本文的文献

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

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