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01-08-2015 | Original Paper | Uitgave 8/2015

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population

Tijdschrift:: Journal of Autism and Developmental Disorders > Uitgave 8/2015

Auteurs:: Watfa Al-Mamari, Abeer Al-Saegh, Adila Al-Kindy, Zandre Bruwer, Fathiya Al-Murshedi, Khalid Al-Thihli

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Abstract

Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies.

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Titel: Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population
Auteurs:: Watfa Al-Mamari
Abeer Al-Saegh
Adila Al-Kindy
Zandre Bruwer
Fathiya Al-Murshedi
Khalid Al-Thihli
Publicatiedatum: 01-08-2015
DOI: https://doi.org/10.1007/s10803-015-2394-9
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Uitgave 8/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

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