Detection of 1p36 deletion by clinical exome-first diagnostic approach

被引：14

作者：

Watanabe M. ^{[1
,2
]}

Hayabuchi Y. ^{[3
]}

Ono A. ^{[3
]}

Naruto T. ^{[1
]}

Horikawa H. ^{[1
,4
]}

Kohmoto T. ^{[1
,2
]}

Masuda K. ^{[1
]}

Nakagawa R. ^{[3
]}

Ito H. ^{[3
]}

Kagami S. ^{[3
]}

Imoto I. ^{[1
]}

机构：

[1] Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima

[2] Stu. Laboratory, Faculty of Medicine, Tokushima University, Tokushima

[3] Department of Paediatrics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima

[4] Support Center for Advanced Medical Sciences, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima

来源：

Human Genome Variation | / 3卷 / 1期

基金：

日本学术振兴会;

关键词：

D O I：

10.1038/hgv.2016.6

中图分类号：

学科分类号：

摘要：

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.

引用

共 16 条

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