De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism

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...

Full description

Saved in:
Bibliographic Details
Published in:Sultan Qaboos University medical journal 2015-08, Vol.15 (3), p.e415-419
Main Authors: Achandira M. Udayakumar, Watfa Al-Mamari, Abeer Al-Sayegh, Adila Al-Kindy
Format: Article
Language:English
Subjects:
Array Comparative Genomic Hybridization
Autism Spectrum Disorder
Case Report
Chromosome 7
Craniofacial Abnormalities
Duplication 7p
Oman
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 detected by conventional G-banded karyotype analysis/fluorescence in situ hybridisation and confirmed by array comparative genomic hybridisation. To the best of the authors’ knowledge, this is the first 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.
ISSN:2075-051X
2075-0528
DOI:10.18295/squmj.2015.15.03.018