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Complex genomic rearrangements of the Y chromosome in a premature infant.

Stephanie A BalowAlyxis G CoyanNicki SmithBianca E RussellDanielle MonteilRobert J HopkinTeresa A Smolarek
Published in: Molecular cytogenetics (2024)
This case is a novel example of suspected germline chromoanagenesis leading to large copy number changes that are well-tolerated, possibly because only the sex chromosomes are affected.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • pulmonary embolism
  • dna repair
  • dna methylation
  • gene expression
  • dna damage
  • oxidative stress