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PMID: 738728 Published · ppublish English Journal Article

Systematic analysis of 95 reciprocal translocations of autosomes.

Human genetics ·Vol. 45 ·No. 3 ·1978-12-29 ·Pages 259-82

Aurias A, Prieur M, Dutrillaux B, Lejeune J

Abstract

The statistical analysis of 95 cases of reciprocal translocations involving autosomes detected among about 10,000 patients studied with the R-banding technique gives the following information: 1. An excess of break points exists for chromosome arms 4p,9p, 10q, 21q, and 22q and a deficiency for 1p, 2p, and 6q. Furthermore, there are relatively more break points in the small arms than in the large arms, when the translocation is ascertained through an unbalanced translocation carrier. Except for chromosome 22, an ascertainment bias explain this non random distribution. 2. An excess of telomeric break points exists in all cases of translocations ascertained through unbalanced carriers, and an excess of centromeric break point exists in the case of 3:1 and 1:3 segregations only. These excesses are also explained by an ascertainment bias. 3. The break points are located usually at the junction of the bands (interfaces). 4. The size of the chromosomal imbalance varies in the ascertainment classes. It is very large in cases ascertained through balanced carriers (at least one break point is far from the telomere), large in cases ascertained through abortion, and relatively moderate in cases ascertained through unbalanced translocation carriers (at least one break point is juxta telomeric). 5. An excess of balanced reciprocal translocations exists in our sample of mentally retarded and malformed children (position effect?). 6. An excess of balanced reciprocal translocations (not involving chromosome 21) exists among the trisomics 21 and their parents (interchromosomal effect?). 7. A large excess of maternal transmission exists in cases of 3:1 segregation of reciprocal translocation.

MeSH Terms
Abnormalities, Multiple/genetics Adolescent Child Child, Preschool Chromosome Banding Chromosomes, Human/ultrastructure Female Growth Disorders/genetics Humans Intellectual Disability/genetics Male Statistics as Topic Translocation, Genetic
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Aurias A
Prieur M
Dutrillaux B
Lejeune J
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00278725
Published
1978-12-29
Pages
259-82
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00278725 View journal details
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