A patient with 22q11.2 deletion and opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
A patient with 22q11.2 deletion and opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
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DOI：
10.1002/ajmg.a.32025
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发表时间：
2007-12-15
影响因子：
2
通讯作者：
Dumanski, Jan P.
中科院分区：
文献类型：
--
作者：
Erickson, Robert P.;de Stahl, Teresita Diaz;Dumanski, Jan P.
先前描述了 5 名患者患有 Opitz (GBBB) 综合征 (OMIM 145410) 表型，并通过 FISH 确定了 22q11.2 缺失，但其缺失的精确范围尚未确定。由于 Opitz 综合征的一个基因座映射到 22q11.2，并且染色体排列通常很复杂，并且可能使该基因座失活，因此我们对一名具有 22q11.2 缺失的新 Opitz 综合征样表型患者进行了基于高分辨率阵列的比较基因组杂交 (CGH)。他与腭心面综合征和迪乔治综合征患者有相同的缺失。 (c) 2007 年 Wiley-Liss, Inc.
Five patients were previously described with the Opitz (GBBB) syndrome (OMIM 145410) phenotype and 22q11.2 deletion determined by FISH but the precise limits of their deletions have not been determined. Since one locus for Opitz syndrome maps to 22q11.2 and chromosomal arrangements are frequently complex and Could inactivate such a locus, we performed high-resolution array-based comparative genomic hybridization (CGH) on a new Opitz syndrome-like phenotype patient with a 22q11.2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome. (c) 2007 Wiley-Liss, Inc.