Benign, pathogenic and copy number variations of unknown clinical significance in patients with congenital malformations and developmental delay

Benign, pathogenic and copy number variations of unknown clinical significance in patients with congenital malformations and developmental delay

The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most power...

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Bibliographic Details
Main Authors: Mihaylova M, Staneva R, Toncheva D, Pancheva M, Hadjidekova S
Format: Article
Language:English
Published: Sciendo 2017-06-01
Series:Balkan Journal of Medical Genetics
Subjects:
microarray comparative genomic hybridization (acgh)
congenital anomalies (cas)
copy number variations (cnvs)
Online Access:https://doi.org/10.1515/bjmg-2017-0010

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