Molecular analysis of a complex chromosomal rearrangement and a review of familial cases
- Johns Hopkins Univ., Baltimore, MD (United States)
- Medical Univ. of South Carolina, Charleston, SC (United States)
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. 68 refs., 4 figs., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 62032
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 53; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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