Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs.

ABSTRACT:

Background

The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of this study was to detect causative copy number variations (CNVs) in fetuses of terminated pregnancies with prenatally detected isolated brain malformations.

Methods

Array-based molecular karyotyping was performed in a cohort of 35 terminated fetuses with isolated CNS malformations. Identified putative disease-causing CNVs were confirmed using quantitative polymerase chain reaction or multiplex ligation-dependent probe amplification.

Results

Based on their de novo occurrence and/or their established association with congenital brain malformations, we de

SUBMITTER: Schumann M 

PROVIDER: S-EPMC4832534 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature