Ontology highlight
ABSTRACT:
SUBMITTER: Iourov IY
PROVIDER: S-EPMC3586477 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Iourov Ivan Y IY Vorsanova Svetlana G SG Kurinnaia Oxana S OS Yurov Yuri B YB
Case reports in genetics 20130214
We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child presenting with mild intellectual disability and facial dysmorphisms. Array comparative genomic hybridization (CGH) has shown that the deletion resulted in the loss of 68 genes, among which 5 genes (COX4I2, MYLK2, ASXL1, DNMT3B, and SNTA1) are disease causing. The size of the deletion was estimated to span 2.6 Mb. Only three cases of deletions encompassing this chromosomal region have been reported. ...[more]