Ontology highlight
ABSTRACT:
SUBMITTER: Udayakumar AM
PROVIDER: S-EPMC4554279 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Sultan Qaboos University medical journal 20150824 3
The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in January 2012. The patient was diagnosed with craniofacial dysmorphism, global developmental delay, hypotonia and bilateral cryptorchidism. The duplication was ...[more]