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

1 Jun 2017

Abstract excerpt

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 powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high...

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PMID: 28924535
DOI: 10.1515/bjmg-2017-0010

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