采用临床外显子优先诊断方法检测1p36缺失。
Detection of 1p36 deletion by clinical exome-first diagnostic approach.
作者信息
Watanabe Miki, Hayabuchi Yasunobu, Ono Akemi, Naruto Takuya, Horikawa Hideaki, Kohmoto Tomohiro, Masuda Kiyoshi, Nakagawa Ryuji, Ito Hiromichi, Kagami Shoji, Imoto Issei
机构信息
Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
Student Laboratory, Faculty of Medicine, Tokushima University, Tokushima, Japan.
出版信息
Hum Genome Var. 2016 May 12;3:16006. doi: 10.1038/hgv.2016.6. eCollection 2016.
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.
尽管基于特征，1p36缺失综合征在临床上被认为是可识别的，但婴儿期患者的临床表现往往与生命后期观察到的表现不一致。我们报告了一名4个月大的女孩，她表现出多种先天性异常和发育迟缓，但没有由1p36.32 - p36.33末端缺失引起的综合征性疾病的临床体征，该缺失最初是通过靶向外显子组测序进行分子诊断时发现的。
Zotero 插件