<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Congenital malformations present at delivery of an infant are due to genetic or non genetic factors and occur in 15-20% of stillborn children. Most can be diagnosed prenatally by ultrasound examination, but some can only be diagnosed after birth. Seven to 10% of infants with abnormal phenotype have numerical or structural chromosomal abnormalities that require identification for accurate diagnosis and genetic counseling. Molecular-cytogenetic and array-based techniques have enabled screening at higher resolution for congenital anomalies that result from genomic imbalances. We have examined four children with congenital anomalies, with or without mental retardation, of unclear etiology. In one child, we detected a deletion (about 28 Mb) of the region 18q21.1-18q23, in mosaic form. This abnormality was missed in a routine cytogenetic examination. We detected different polymorphic copy number variations (CNVs) in the other children. We conclude that array-based comparative genomic hybridization (CGH) is a powerful diagnostic tool for the detection of low level mosaicism.</p></abstract>

Congenital malformations present at delivery of an infant are due to genetic or non genetic factors and occur in 15-20% of stillborn children. Most can be diagnosed prenatally by ultrasound examination, but some can only be diagnosed after birth. Seven to 10% of infants with abnormal phenotype have numerical or structural chromosomal abnormalities that require identification for accurate diagnosis and genetic counseling. Molecular-cytogenetic and array-based techniques have enabled screening at higher resolution for congenital anomalies that result from genomic imbalances. We have examined four children with congenital anomalies, with or without mental retardation, of unclear etiology. In one child, we detected a deletion (about 28 Mb) of the region 18q21.1-18q23, in mosaic form. This abnormality was missed in a routine cytogenetic examination. We detected different polymorphic copy number variations (CNVs) in the other children. We conclude that array-based comparative genomic hybridization (CGH) is a powerful diagnostic tool for the detection of low level mosaicism.

Whole Genome Analysis by Array-Based Comparative Genomic Hybridization in Patients with Congenital Malformations

Department of Medical Genetics, Medical University Sofia, Sofia, Bulgaria

Department of Pediatrics, Section Clinical Genetics, Medical University Sofia

Department of Urology, Medical University Sofia, Sofia, Bulgaria

Balkan Journal of Medical Genetics

Congenital malformations present at delivery of an infant are due to genetic or non genetic factors and occur in 15-20% of stillborn children. Most can be...

Whole Genome Analysis by Array-Based Comparative Genomic Hybridization in Patients with Congenital Malformations

Published Online: Nov 12, 2008

Page range: 33 - 40

DOI: https://doi.org/10.2478/v10034-008-0015-z

Keywords
Congenital malformations, Genomic imbalances, DNA microarrays, Mosaicism

This content is open access.

Whole Genome Analysis by Array-Based Comparative Genomic Hybridization in Patients with Congenital Malformations

Published Online: Nov 12, 2008

Page range: 33 - 40

DOI: https://doi.org/10.2478/v10034-008-0015-z

KeywordsCongenital malformations, Genomic imbalances, DNA microarrays, Mosaicism

This content is open access.

Keywords
Congenital malformations, Genomic imbalances, DNA microarrays, Mosaicism