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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sultan Qaboos Univ Med J
Prif Awduron: Udayakumar, Achandira M., Al-Mamari, Watfa, Al-Sayegh, Abeer, Al-Kindy, Adila
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2015
Pynciau:
Online Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4554279/
https://ncbi.nlm.nih.gov/pubmed/26357560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18295/squmj.2015.15.03.018
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