6q21-22 deletion syndrome with interrupted aortic arch.
6q21-22 deletion syndrome with interrupted aortic arch.
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DOI：
10.1038/hgv.2015.15
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发表时间：
2015
影响因子：
1.5
通讯作者：
Yamagata T
中科院分区：
文献类型：
--
作者：
Matsumoto A;Nozaki Y;Minami T;Jimbo EF;Shiraishi H;Yamagata T
此前已有 11 名个体出现 6q21-22 间质性缺失的报道，这些人出现智力障碍、面部畸形、心脏异常、小脑发育不全和胼胝体发育不良。在这里，我们报告了首例 6q21-22 缺失患者，除了先前描述的临床症状外，还出现主动脉弓中断。使用安捷伦人类基因组 CGH 180K 进行阵列分析，发现 6q21–q22.31 处存在 13.3 Mb 的缺失（nt. 109885195–123209593）。
Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21–22 deletion presenting with interrupted aortic arch in addition to the previously described clinical signs. Array analysis using Agilent Human genome CGH 180K identified a 13.3-Mb deletion at 6q21–q22.31 (nt. 109885195–123209593).