Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.
Array-Comparative Genomic Hybridization (Array-CGH)
autism spectrum disorders
copy number variants
females
Journal
Journal of personalized medicine
ISSN: 2075-4426
Titre abrégé: J Pers Med
Pays: Switzerland
ID NLM: 101602269
Informations de publication
Date de publication:
09 Oct 2020
09 Oct 2020
Historique:
received:
07
09
2020
revised:
20
09
2020
accepted:
21
09
2020
entrez:
14
10
2020
pubmed:
15
10
2020
medline:
15
10
2020
Statut:
epublish
Résumé
Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and characterization of submicroscopic deletions/duplications (copy number variants, CNVs) associated with ASD was made possible. However, the widely acknowledged excess of males on the autism spectrum reflects on a paucity of CMA studies specifically focused on females with ASD (f-ASD). In this framework, we aim to evaluate the frequency of causative CNVs in a single-center cohort of idiopathic f-ASD. Among the 90 f-ASD analyzed, we found 20 patients with one or two potentially pathogenic CNVs, including those previously associated with ASD (located at 16
Identifiants
pubmed: 33050239
pii: jpm10040160
doi: 10.3390/jpm10040160
pmc: PMC7720139
pii:
doi:
Types de publication
Journal Article
Langues
eng
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