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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal

N B Satkin1, B Karaman1, S Ergin1

  • 1Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul, Turkey.

Balkan Journal of Medical Genetics : BJMG
|April 5, 2021
PubMed
Summary
This summary is machine-generated.

Chromosomal microarray (CMA) effectively detects submicroscopic imbalances in apparently balanced chromosomal rearrangements (ABCRs), identifying a 40.9% abnormality rate in de novo cases. This supports routine CMA use for all ABCRs, regardless of prenatal ultrasound findings.

Keywords:
Apparently balanced structural chromosomal abnormalities (ABCRs)Array-comparative genomic hybridization (aCGH)Chromosomal microarray (CMA)Cryptic genomic imbalancesFetal ultrasound findings

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Area of Science:

  • Genetics and Genomics
  • Reproductive Medicine
  • Clinical Diagnostics

Background:

  • Carriers of apparently balanced chromosomal rearrangements (ABCRs) have an elevated risk (2-3 fold) of abnormal phenotypes compared to the general population.
  • Submicroscopic imbalances, gene structure alterations, chimeric gene formation, altered gene function, and imprinting changes can underlie ABCR-associated phenotypes.
  • Chromosomal microarray (CMA) is a sensitive tool for detecting submicroscopic genomic imbalances.

Purpose of the Study:

  • To evaluate the diagnostic utility of array-comparative genomic hybridization (aCGH), a type of CMA, in phenotypically affected individuals with ABCRs.
  • To determine the frequency of submicroscopic imbalances in prenatal and postnatal cases with ABCRs at a single Turkish center.

Main Methods:

  • Investigated 34 affected cases (13 prenatal, 21 postnatal) with known ABCRs using CMA.
  • Analyzed familial versus de novo origins of ABCRs in both prenatal and postnatal cohorts.
  • Assessed the rate of cryptic imbalances detected by CMA.

Main Results:

  • In the postnatal series, 7 of 21 cases (33.3%) had de novo imbalanced rearrangements, with 50.0% of de novo cases being imbalanced.
  • In the prenatal series, 2 of 8 de novo cases (25.0%) showed imbalanced rearrangements (15.4% of all prenatal cases).
  • No cryptic imbalances were found in familial cases. Combined de novo prenatal and postnatal results showed a 40.9% abnormality detection rate by CMA.

Conclusions:

  • CMA is effective in identifying submicroscopic imbalances in individuals with apparently balanced chromosomal rearrangements.
  • The study highlights a significant rate of de novo imbalances in both prenatal and postnatal ABCR cases.
  • Routine CMA investigation is recommended for all ABCR cases, irrespective of fetal ultrasound findings, to detect potential submicroscopic abnormalities.