A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies.
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ABSTRACT:
SUBMITTER: Yuan H
PROVIDER: S-EPMC4970238 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
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A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies.
Yuan Haiming H Meng Zhe Z Liu Liping L Deng Xiaoyan X Hu Xizi X Liang Liyang L
Molecular cytogenetics 20160802
<h4>Backgroud</h4>Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, distinctive facial features, behavior problems, skeletal and genital dysplasia.<h4>Case presentation</h4>A de novo 1.6 Mb microdeletion at 19q13.2q13.31 was detected by chromosomal microarray analysis. Haploinsufficiency of the RPS19 gene is known to cause Diamond-Blackfan ...[more]
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