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Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis.

Mary A GudipatiElizabeth WatersCarol GreeneNidhi GoelNicole L HoppmanBeth A PitelMatthew R WebleyYing S Zou
Published in: Molecular cytogenetics (2019)
To our knowledge, our case is the first case with familial constitutional chromoanagenesis involving chromosome 1q24-q42. This report emphasizes the value of performing microarray and mate pair next-generation sequencing analysis for individuals with germline abnormal or complex chromosome rearrangements.
Keyphrases
  • copy number
  • healthcare
  • genome wide
  • early onset
  • dna repair
  • gene expression
  • dna damage