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

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 ch...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of autism and developmental disorders 2015-08, Vol.45 (8), p.2323-2328
Hauptverfasser:	Al-Mamari, Watfa, Al-Saegh, Abeer, Al-Kindy, Adila, Bruwer, Zandre, Al-Murshedi, Fathiya, Al-Thihli, Khalid
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - epidemiology Abnormalities, Multiple - genetics Adolescent Autism Autism Spectrum Disorder - diagnosis Autism Spectrum Disorder - epidemiology Autism Spectrum Disorder - genetics Autism Spectrum Disorders Behavioral Science and Psychology Child Child and School Psychology Child, Preschool Children Cohort Studies Comorbidity Consanguinity Cross-Sectional Studies Developmental Delays Developmental Disabilities - diagnosis Developmental Disabilities - epidemiology Developmental Disabilities - genetics Diagnosis DNA Copy Number Variations DNA microarrays Female Foreign Countries Genetic aspects Genetic Disorders Genetics Humans Intellectual Disability Intellectual Disability - diagnosis Intellectual Disability - epidemiology Intellectual Disability - genetics Male Middle Aged Neurosciences Oligonucleotide Array Sequence Analysis Oman Original Paper Pediatrics Pervasive Developmental Disorders Psychology Public Health
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	0162-3257 1573-3432
DOI:	10.1007/s10803-015-2394-9