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

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4 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 languageEnglish
Pages (from-to)2323-2328
Number of pages6
JournalJournal of Autism and Developmental Disorders
Volume45
Issue number8
DOIs
Publication statusPublished - Feb 24 2015

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Microarray Analysis
Oman
Population
Medicine
Autism Spectrum Disorder
Sultan

Keywords

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

ASJC Scopus subject areas

  • Developmental and Educational Psychology

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 - Bruwer, Zandre

AU - Al-Murshedi, Fathiya

AU - Al-Thihli, Khalid

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