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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Published in | Human genome variation Vol. 3; no. 1; p. 16006 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
London
Nature Publishing Group UK
12.05.2016
Springer Nature B.V Nature Publishing Group |
Subjects | |
Online Access | Get full text |
ISSN | 2054-345X 2054-345X |
DOI | 10.1038/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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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 These authors contributed equally to this work. |
ISSN: | 2054-345X 2054-345X |
DOI: | 10.1038/hgv.2016.6 |