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

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

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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...

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Bibliographic Details
Main Authors: Achandira M. Udayakumar, Watfa Al-Mamari, Abeer Al-Sayegh, Adila Al-Kindy
Format: Article
Language:English
Published: Sultan Qaboos University 2015-08-01
Series:Sultan Qaboos University Medical Journal
Subjects:
autism spectrum disorder
array comparative genomic hybridization
craniofacial abnormalities
chromosome 7
duplication 7p
case report
oman.
Online Access:https://journals.squ.edu.om/index.php/squmj/article/view/2052

Internet

https://journals.squ.edu.om/index.php/squmj/article/view/2052

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