Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

被引：12
作者：
Li, Deling [1 ]
Tekin, Mustafa [2 ,3 ]
Buch, Maria [4 ]
Fan, Yao-Shan [1 ]
机构：
[1] Univ Miami, Miller Sch Med, Dept Pathol, Miami, FL 33136 USA
[2] Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA
[3] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA
[4] Univ Miami, Miller Sch Med, Jackson Mem Hosp, Miami, FL 33136 USA
来源：
MOLECULAR CYTOGENETICS | 2012年 / 5卷
关键词：
DiGeorge syndrome; 22q11.2; microdeletion; microduplication; Array CGH; Copy number variations; (CNVs); MICRODUPLICATION; 22Q11.2; MENTAL-RETARDATION; AUTISM; SPECTRUM; DEFICITS; GENE;
D O I：
10.1186/1755-8166-5-18
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Background: The phenotype in patients with a 22q11.2 deletion or duplication can be extremely variable, and the causes of such as variations are not well known. Results: We observed additional copy number variations (CNVs) in 2 of 15 cases with a 22q11.2 deletion or duplication. Both cases were newborn babies referred for severe congenital heart defects. The first case had a deletion with a size of approximately 1.56 Mb involving multiple genes including STS in the Xp22.31 region along with a 22q11.2 deletion. The second case had a duplication of 605 kb in the 15q13.3 region encompassing CHRNA7 and a deletion of 209 kb involving the RBFOX1 gene in the 16p13.2 region, in addition to 22q11.2 duplication. Discussion: Our observations have shown that additional CNVs are not rare (2/15, 13%) in patients with a 22q11.2 deletion or duplication. We speculate that these CNVs may contribute to phenotype variations of 22q11.2 microdeletion/duplication syndromes as genomic modifiers.
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