De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism
Journal Title: Sultan Qaboos University Medical Journal - Year 2015, Vol 15, Issue 3
Abstract
Te duplication of the short arm of chromosome 7 as de novo is extremely rare. Te 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. Te patient was diagnosed with craniofacial dysmorphism, global developmental delay, hypotonia and bilateral cryptorchidism. Te duplication was detected by conventional G-banded karyotype analysis/fluorescence in situ hybridisation and confrmed by array comparative genomic hybridisation. To the best of the authors’ knowledge, this is the frst report of chromosomal region 7p21.1 involvement in an autistic patient showing features of a 7p duplication phenotype. Identifying genes in the duplicated region using molecular techniques is recommended to promote characterisation of the phenotype and associated condition. It may also reveal the possible role of these genes in autism spectrum disorder.
Authors and Affiliations
Achandira M. Udayakumar| Department of Genetics, College of Medicine & Health Sciences, Sultan Qaboos Universit, Watfa Al-Mamari| Departments of Child Health and, Abeer Al-Sayegh| Genetics, Sultan Qaboos University Hospital, Muscat, Oman, Adila Al-Kindy| Genetics, Sultan Qaboos University Hospital, Muscat, Oman
Keywords
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