Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH
Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH
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DOI：
10.1016/j.gene.2011.10.023
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发表时间：
2012-01-15
期刊：
影响因子：
3.5
通讯作者：
Tzetis, Maria
中科院分区：
文献类型：
--
作者：
Kitsiou-Tzeli, Sophia;Frysira, Helen;Tzetis, Maria
高分辨率寡核苷酸阵列比较基因组杂交技术（aCGH）有助于17q21.31微缺失和微重复综合征的识别。17q21.31微缺失/重复综合征的分子分析表明，一个关键区域涉及至少6个基因，包括STH和MAPT。17q21.31微缺失综合征的发病率为1/16，000，而17q21.31微重复迄今仅在5例患者中报告。一般来说，与17q21.31微重复相关的表型似乎比与微缺失相关的表型更温和。在这里，我们介绍了四名患者谁已被转介临床遗传学家的遗传评估，由于发育迟缓和轻微的先天性异常。先前的标准核型均为阴性，而aCGH分析显示3例患者17q21.31微缺失，1例患者相应的微重复，是迄今为止报道的第6例。最重要的是，其中一个微缺失病例仅涉及部分MAPT基因缺失，而STH基因保持完整。我们的两名患者，一个与17q21.31微缺失和另一个与各自的微重复，携带额外的临床相关的微缺失（del Xq21.31和del 15q11.2，分别），可能修改他们的表型。(C)2011 Elsevier B. V.保留所有权利。
The recognition of the 17q21.31 microdeletion and microduplication syndrome has been facilitated by high resolution oligonucleotide array comparative genome hybridization technology (aCGH). Molecular analysis of the 17q21.31 microdeletion/duplication syndrome demonstrated a critical region involving at least six genes, including STH and MAPT. The 17q21.31 microdeletion syndrome has an incidence of 1 in 16,000 births, while the microduplication 17q21.31 has been reported so far in only five patients. In general, phenotypes associated with 17q21.31 microduplication seem to be milder than those associated with the microdeletion. Here, we present four patients who have been referred for genetic evaluation by clinical geneticists due to developmental delay and minor congenital abnormalities. Previous standard karyotypes were negative, while aCGH analysis revealed three patients with 17q21.31 microdeletion and one with the respective microduplication, being the sixth reported case so far. Most importantly one of the microdeletion cases involves only partial MAPT gene deletion while leaving the STH gene intact. Two of our patients, one with the 17q21.31 microdeletion and another with the respective microduplication, carried additional clinically relevant microdeletions (del Xq21.31 and del 15q11.2, respectively), possibly modifying their phenotype. (C) 2011 Elsevier B.V. All rights reserved.