Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

Molecular Cytogenetics

Joris Vermeesch⁴  Jean-Pierre Fryns⁴  Nicole de Leeuw¹  Albert Schinzel³  Gülen E Utine²  Thierry Voet⁴  Caroline Robberecht⁴ 

[1]Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

[2]Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey

[3]Institute of Medical Genetics, University of Zürich, Zürich, Switzerland

[4]Department of Human Genetics, Catholic University Leuven, Leuven, Belgium

关键词: Meiotic;    Postzygotic;    Mitotic;    Prezygotic;    Mechanism;    Constitutional;    Somatic mosaicism;    Deletion;    Duplication;    Segmental aneusomy;   

Others  :  1151542
DOI  :  10.1186/1755-8166-5-19

 received in 2012-02-17, accepted in 2012-04-10,  发布年份 2012

【 摘 要 】

Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one percent of both the healthy and patient populations. It is generally accepted that such constitutional mosaicisms are derived from postzygotic somatic mutations. However, few studies have tested this assumption. Here we determined the origin of CNVs which coexist with a normal cell line in nine individuals. We show that in 2/9 the CNV originated during meiosis. The existence of two cell lines with 46 chromosomes thus resulted from two parallel trisomy rescue events during postzygotic mitoses.

【 授权许可】

   
2012 Robberecht et al; licensee BioMed Central Ltd.

【 图 表 】

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