Familial complex chromosomal rearrangement resulting in a recombinant chromosome

Sue Ann Berend, Olaf A.F. Bodamer, Stuart K. Shapira, Lisa G. Shaffer, Carlos A. Bacino

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Familial complex chromosomal rearrangements (CCRs) are rare and tend to involve fewer breakpoints and fewer chromosomes than CCRs that are de novo in origin. We report on a CCR identified in a child with congenital heart disease and dysmorphic features. Initially, the child's karyotype was thought to involve a straightforward three-way translocation between chromosomes 3, 8, and 16. However, after analyzing the mother's chromosomes, the mother was found to have a more complex rearrangement that resulted in a recombinant chromosome in the child. The mother's karyotype included an inverted chromosome 2 and multiple translocations involving chromosomes 3, 5, 8, and 16. No evidence of deletion or duplication that could account for the clinical findings in the child was identified.

Original languageEnglish (US)
Pages (from-to)311-317
Number of pages7
JournalAmerican journal of medical genetics
Issue number4
StatePublished - May 15 2002


  • CCR
  • Complex rearrangement
  • Recombinant

ASJC Scopus subject areas

  • Genetics(clinical)


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