Back to Search
Start Over
Molecular analysis of a complex chromosomal rearrangement and a review of familial cases
- Source :
- American Journal of Medical Genetics. 53:255-263
- Publication Year :
- 1994
- Publisher :
- Wiley, 1994.
-
Abstract
- 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 break-points 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.
- Subjects :
- Male
Heterozygote
Adolescent
Mothers
Chromosome Disorders
Trisomy
Chromosomal translocation
Chromosomal rearrangement
Biology
Genetic recombination
Translocation, Genetic
Meiosis
Intellectual Disability
medicine
Humans
Abnormalities, Multiple
In Situ Hybridization, Fluorescence
Genetics (clinical)
Chromosome Aberrations
Chromosome 7 (human)
Genetics
Chromosomes, Human, Pair 13
medicine.diagnostic_test
Karyotype
Telomere
medicine.disease
Molecular biology
Chromosome Banding
Pedigree
Karyotyping
Female
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 8
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 53
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....52ec4cecaa2f741023cbd5364aa3b347