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

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...

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Bibliographic Details
Published inHuman genome variation Vol. 3; no. 1; p. 16006
Main Authors Watanabe, Miki, Hayabuchi, Yasunobu, Ono, Akemi, Naruto, Takuya, Horikawa, Hideaki, Kohmoto, Tomohiro, Masuda, Kiyoshi, Nakagawa, Ryuji, Ito, Hiromichi, Kagami, Shoji, Imoto, Issei
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 12.05.2016
Springer Nature B.V
Nature Publishing Group
Subjects
631/208/1516
631/61/514/2254
692/699
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
Online AccessGet full text
ISSN2054-345X
2054-345X
DOI10.1038/hgv.2016.6

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Summary: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.
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These authors contributed equally to this work.
ISSN:2054-345X
2054-345X
DOI:10.1038/hgv.2016.6