ID | 115133 |
Title Alternative | Chromosome 1p36 deletion syndrome detected by NGS
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Author |
Watanabe, Miki
Tokushima University
Hayabuchi, Yasunobu
Tokushima University
Tokushima University Educator and Researcher Directory
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Ono, Akemi
Tokushima University
Kohmoto, Tomohiro
Tokushima University
Nakagawa, Ryuji
Tokushima University
Tokushima University Educator and Researcher Directory
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Kagami, Shoji
Tokushima University
Tokushima University Educator and Researcher Directory
KAKEN Search Researchers
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Content Type |
Journal Article
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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.
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Journal Title |
Human Genome Variation
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ISSN | 2054345X
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Publisher | Springer Nature
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Volume | 3
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Start Page | 16006
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Published Date | 2016-05-12
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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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language |
eng
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departments |
Medical Sciences
Technical Support Department
University Hospital
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