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Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications.

Sharon Molinari1, Niecy Williams1, Gloria Haskell1

  • 1Center for Molecular Biology and Pathology, Labcorp, Durham, North Carolina, USA.

American Journal of Medical Genetics. Part A
|September 22, 2025
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Summary
This summary is machine-generated.

This study analyzed over 415,000 chromosomal microarray tests, finding isodisomy in 0.04% of cases. Findings reveal its varying frequency and clinical relevance across different specimen types, highlighting diagnostic value.

Keywords:
isodisomysingle nucleotide polymorphism microarray (SNP microarray)uniparental disomy (UPD)

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Area of Science:

  • Genetics
  • Chromosomal Abnormalities
  • Reproductive Medicine

Background:

  • Whole chromosomal isodisomy is a rare event with significant clinical implications.
  • Chromosomal microarray (CMA) is a key diagnostic tool for detecting chromosomal abnormalities.

Purpose of the Study:

  • To investigate the frequency, ascertainment, and clinical significance of whole chromosomal isodisomy.
  • To analyze patterns of isodisomy across different specimen types (prenatal, postnatal, products of conception).

Main Methods:

  • Analysis of a large database (>415,000) of CMA tests performed since 2008.
  • Examination of isodisomy cases for frequency, chromosome involvement, and parent of origin.
  • Correlation of findings with specimen type and clinical outcomes.

Main Results:

  • Isodisomy was identified in 0.04% of cases.
  • Distinct patterns of chromosome involvement and parent of origin were observed based on specimen type.
  • Isodisomy 14 was frequent prenatally; chromosomes 6, 7, 15 were common postnatally.
  • Imprinted chromosomes were more prevalent in postnatal isodisomy cases, with paternal origin more common.
  • Unmasking of pathogenic variants and associations with lethality were noted.

Conclusions:

  • CMA is crucial for diagnosing isodisomy and understanding its clinical relevance.
  • Isodisomy patterns vary significantly between prenatal and postnatal settings.
  • Further research into imprinted chromosome involvement in isodisomy is warranted.