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Updated: Feb 28, 2026

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Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH
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Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal
Frenny Sheth1, Jhanvi Shah1, Mamta Muranjan2
1FRIGE Institute of Human Genetics, Ahmedabad, India.
American Journal of Medical Genetics. Part A
|February 27, 2026
Summary
This study identified the largest balanced complex chromosomal rearrangement (CCR) to date in a child with developmental disorders. Advanced genomic sequencing revealed gene disruptions, including NLGN4X, potentially explaining the intellectual disability.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- Balanced complex chromosomal rearrangements (CCR) are challenging to characterize but crucial for understanding genotype-phenotype correlations.
- Understanding the molecular basis of CCRs is essential for diagnosing genetic disorders.
Keywords:
NLGN4XBreakpoint characterizationChromoanagenesisChromoplexyComplex chromosomal rearrangementFluorescence in situ hybridization (FISH)Long read sequencingPacBioWhole genome sequencingMore Related Videos
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