Detection of 1p36 deletion by clinical exome-first diagnostic approach.
Detection of 1p36 deletion by clinical exome-first diagnostic approach.
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通过临床外显子优先诊断方法检测 1p36 缺失。
DOI：
10.1038/hgv.2016.6
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发表时间：
2016
影响因子：
1.5
通讯作者：
Imoto I
中科院分区：
文献类型：
--
作者：
Watanabe M;Hayabuchi Y;Ono A;Naruto T;Horikawa H;Kohmoto T;Masuda K;Nakagawa R;Ito H;Kagami S;Imoto I
虽然染色体1 p36缺失综合征被认为是临床识别的基础上的特征，在婴儿期的患者的临床表现往往是不一致的，在以后的生活中观察到的。我们报告了一个4个月大的女孩，她表现出多种先天性异常和发育迟缓，但没有临床症状的综合征疾病引起的末端缺失1p36.32-p36.33，首先确定了靶向外显子测序的分子诊断。
Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis.