Li Deling, Tekin Mustafa, Buch Maria, Fan Yao-Shan
Department of Pathology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Mol Cytogenet. 2012 Apr 9;5(1):18. doi: 10.1186/1755-8166-5-18.
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.
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.
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.
22q11.2 缺失或重复患者的表型可能极具变异性，而此类变异的原因尚不清楚。
我们在 15 例 22q11.2 缺失或重复的病例中观察到 2 例存在额外的拷贝数变异（CNV）。这两例均为因严重先天性心脏缺陷转诊的新生儿。第一例有一个大小约为 1.56 Mb 的缺失，涉及多个基因，包括 Xp22.31 区域的 STS 基因，同时伴有 22q11.2 缺失。第二例除了有 22q11.2 重复外，在 15q13.3 区域有一个 605 kb 的重复，涵盖 CHRNA7 基因，在 16p13.2 区域有一个 209 kb 的缺失，涉及 RBFOX1 基因。
我们的观察结果表明，额外的 CNV 在 22q11.2 缺失或重复患者中并不罕见（2/15，13%）。我们推测这些 CNV 可能作为基因组修饰因子导致 22q11.2 微缺失/重复综合征的表型变异。
