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ID 115133
Title Alternative
Chromosome 1p36 deletion syndrome detected by NGS
Author
Watanabe, Miki Tokushima University
Ono, Akemi Tokushima University
Kohmoto, Tomohiro Tokushima University
Content Type
Journal Article
Description
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.
Journal Title
Human Genome Variation
ISSN
2054345X
Publisher
Springer Nature
Volume
3
Start Page
16006
Published Date
2016-05-12
Rights
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
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DOI (Published Version)
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language
eng
TextVersion
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departments
Medical Sciences
Technical Support Department
University Hospital