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

Watfa Al-Mamari; Abeer Al-Saegh; Adila Al-Kindy; Zandre Bruwer; Fathiya Al-Murshedi; Khalid Al-Thihli

doi:10.1007/s10803-015-2394-9

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

Watfa Al-Mamari, Abeer Al-Saegh^*, Adila Al-Kindy, Zandre Bruwer, Fathiya Al-Murshedi, Khalid Al-Thihli

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

9 Citations (Scopus)

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.

Original language	English
Pages (from-to)	2323-2328
Number of pages	6
Journal	Journal of Autism and Developmental Disorders
Volume	45
Issue number	8
DOIs	https://doi.org/10.1007/s10803-015-2394-9
Publication status	Published - Aug 27 2015

Keywords

Array-CGH
Autism
Autism spectrum disorders
Chromosomal microarray
Consanguinity
Diagnostic yield

ASJC Scopus subject areas

Developmental and Educational Psychology

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10.1007/s10803-015-2394-9

Cite this

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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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AU - Al-Mamari, Watfa

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AU - Al-Kindy, Adila

AU - Bruwer, Zandre

AU - Al-Murshedi, Fathiya

AU - Al-Thihli, Khalid

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KW - Chromosomal microarray

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

Abstract

Keywords

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