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Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Journal of medical genetics ·Vol. 16 ·No. 6 ·1979-12-00 ·Pages 467-78

Jalbert P, Sele B

Abstract

Reciprocal translocations produce imbalances by three types of disjunction which are, in decreasing frequency, adjacent 1, 3:1, and adjacent 2. Adjacent 1 disjunction produces duplication deficiencies of inverse topography to those of adjacent 2. The imbalanced chromosome segments in one of these types are balanced in the other. The disjunction 3:1 produces pure trisomies and monosomies. The following situations predispose to adjacent 2 disjunction: translocations between the long arms of two acrocentric chromosomes or between one of these and that of a No 9 chromosome; centric segments, either short or carrying a heterochromatic zone (9qh); a balanced translocation in the mother. The factors predisposing to the disjunction adjacent 2 operate by selection, or directly on the meiotic configuration. Some of them (shortness of the interstitial segment, shortness of the short arms of translocation chromosomes) act in both these ways. Their influence is probably responsible for the repetitive and exclusive character of this disjunction. The conditions for the occurrence of the 3:1 disjunctions seem less strict than those for adjacent 2, although they should be of the same nature (involvement of acrocentrics or a chromosome 9 in the translocation, maternal origin).

MeSH Terms
Chromosome Banding Chromosomes, Human/ultrastructure Chromosomes, Human, 21-22 and Y Female Humans Infant Karyotyping Pedigree Translocation, Genetic
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Jalbert P
Sele B
References (144)
144 references, click to expand
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    Humangenetik. 1975;27(3):269-74 PMID: 1150249
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.16.6.467
Published
1979-12-00
Pages
467-78
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1012595
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.16.6.467 PMC Full Text View journal details
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