Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

D. A.S. Batista, G. S. Pai, Gail Stetten

Research output: Contribution to journalArticlepeer-review


A complex chromosome rearrangement (CCR) involving chromosomes 7, 8, and 13 was detected in a phenotypically normal woman ascertained through her mentally retarded son with abnormal phenotype. He had a karyotype with 47 chromosomes including an extra der(13). In initial banding studies the CCR in the mother was interpreted as a three-way translocation. Fluorescence in situ hybridization with whole chromosome libraries and a telomere-specific probe was used to better characterize the rearrangement. Combined data allowed us to reinterpret the CCR as a translocation and an insertion. A review of 35 familial CCRs involving at least three chromosomes led to the following observations: 1) familial CCRs tend to have fewer chromosomes involved and fewer breakpoints than do de novo CCRs; 2) familial transmission is mainly observed through female carriers although the origin of de novo cases is paternal; 3) an apparent excess of balanced female carriers among the offspring of index carriers was noted; and 4) meiotic segregation resulting in malformed liveborn infants is most frequently due to adjacent-1 segregation, followed by 4:2 segregation; no adjacent-2 segregation was observed.

Original languageEnglish (US)
Pages (from-to)255-263
Number of pages9
JournalAmerican journal of medical genetics
Issue number3
StatePublished - 1994
Externally publishedYes


  • complex chromosome rearrangement
  • fluorescence in situ hybridization

ASJC Scopus subject areas

  • Genetics(clinical)


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