Genomic imbalances of chromosome 15 in patients with autistic features and global developmental delay

ABSTRACT:

Introduction

Background: Copy-number variants (CNVs) of chromosome 15 have been associated with neurodevelopmental disorders like autism spectrum disorders (ASDs) and developmental delay.

Objectives

We report 6 patients with autistic features and other neurodevelopmental problems carrying CNVs of chromosome 15.

Methods

Materials and methods: The probands belong to a group of patients referred to our clinic and laboratory with autism as main feature. A complete clinical evaluation was performed with focus on neurologic, psychiatric, and psychological evaluation with specific autism tests. Array-based comparative genomic hybridization (array-CGH) was performed using 180K platform (Agilent technology).

Results

six patients investigated by array-CGH had a CN

SUBMITTER: Budisteanu M 

PROVIDER: S-EPMC9564021 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature