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Karyotyping

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Related Experiment Video

Updated: Mar 22, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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

Madita Schumann¹, Andrea Hofmann², Sophia K Krutzke¹

¹Institute of Human Genetics, University of Bonn, Bonn, Germany.

Journal of Neurodevelopmental Disorders

|April 19, 2016

Summary

Copy number variations (CNVs) are implicated in congenital brain malformations. This study identified causative CNVs in fetuses, highlighting their role in central nervous system malformations.

Keywords:

Array-based karyotyping Brain malformation Copy number variation (CNV)De novo occurrence

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Published on: January 11, 2017

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Published on: February 21, 2015

Detection of Inter-chromosomal Stable Aberrations by Multiple Fluorescence In Situ Hybridization mFISH and Spectral Karyotyping SKY in Irradiated Mice

Detection of Inter-chromosomal Stable Aberrations by Multiple Fluorescence In Situ Hybridization mFISH and Spectral Karyotyping SKY in Irradiated Mice

Published on: January 11, 2017

Area of Science:

Genetics
Developmental Biology
Medical Research

Background:

Congenital malformations of the central nervous system (CNS) affect up to 1% of European births.
The causes of these malformations are largely unknown.
This study focuses on isolated brain malformations in terminated pregnancies.

Purpose of the Study:

To identify causative copy number variations (CNVs) in fetuses with isolated brain malformations.
To investigate the genetic etiology of prenatal brain abnormalities.

Main Methods:

Employed array-based molecular karyotyping on 35 terminated fetuses.
Confirmed CNVs using quantitative polymerase chain reaction or multiplex ligation-dependent probe amplification.
Compared identified CNVs against 1307 healthy controls.

Main Results:

Identified five disease-causing CNVs in four fetuses affecting specific chromosomal regions (e.g., 6p25.1-6p25.3, Xp22.2-Xp22.32).
Detected a probable disease-causing CNV (3p26.3) and 12 CNVs of unknown significance.
Found specific genes (e.g., CNTN6, KLHL15, RASD1, PTPRD, ERMARD) potentially involved in agenesis of the corpus callosum, Dandy-Walker malformation, and ventriculomegaly.

Conclusions:

Copy number variations (CNVs) are significantly involved in the etiology of isolated brain malformations.
This research contributes to understanding the genetic basis of congenital CNS abnormalities.