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Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
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Unusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions.

Melanie Babcock1,2, Marwa Daghsni1,3, Jessica Sebastian4

  • 1Center for Medical Genetics, UPMC Magee-Women's Hospital, Pittsburgh, Pennsylvania, USA.

American Journal of Medical Genetics. Part A
|March 8, 2026
PubMed
Summary
This summary is machine-generated.

Complex chromosomal rearrangements (CCRs) involving chromosome inversions can lead to offspring with genetic imbalances. This study reveals how complex paracentric inversions can cause recurrent recombinant chromosomes, challenging previous assumptions.

Keywords:
ARID1B duplicationCoffin‐Siris syndromecomplex chromosomal rearrangements (CCR)optical genome mappingparacentric inversionrecombinant chromosome

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Area of Science:

  • Genetics
  • Genomics
  • Reproductive Biology

Background:

  • Complex chromosomal rearrangements (CCRs) are structural variations with multiple breakpoints.
  • Intrachromosomal balanced CCRs with inversions present diagnostic challenges due to limitations of conventional cytogenetic methods.
  • Paracentric inversions are typically considered low risk for unbalanced offspring.

Purpose of the Study:

  • To investigate a familial intrachromosomal rearrangement involving a complex paracentric inversion of chromosome 6q.
  • To elucidate the mechanism behind recurrent unbalanced recombinant chromosomes in multiple generations.
  • To highlight the utility of high-resolution genomic technologies in diagnosing and assessing reproductive risks associated with CCRs.

Main Methods:

  • Detailed analysis of a familial intrachromosomal rearrangement across multiple generations.
  • High-resolution optical genome mapping to characterize the complex chromosomal rearrangement.
  • Investigation of meiotic recombination patterns and resulting unbalanced chromosomal products.

Main Results:

  • A familial complex paracentric inversion of chromosome 6q was identified, spanning ~75 Mb and containing a single correctly oriented segment.
  • Recurrent unbalanced recombinant chromosomes with reciprocal interstitial gains and losses on 6q were observed in five affected children.
  • Meiotic recombination within the specific segment of the inversion led to the formation of these unbalanced products.

Conclusions:

  • Paracentric inversions can lead to viable recombinant chromosomes, contrary to traditional assumptions.
  • Complex chromosomal architecture significantly influences meiotic recombination and reproductive outcomes.
  • High-resolution genomic technologies are crucial for accurate diagnosis, mechanistic interpretation, and risk assessment in CCR carriers.