Structural Differences in Pericentric Inversions. Application to a Model of Risk of Recombinants

Overview

Journal Hum Genet

Specialty Genetics

Date 1981 Jan 1

PMID 7239515

Citations 16

Authors

A Daniel

Affiliations

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Abstract

The potential chromosomal imbalance in offspring of pericentric inversion heterozygotes can be evaluated by measuring (% of haploid autosomal length, % HAL) the chromosomal segments distal to the breakpoints in the inversion. These distal segments were measured in presently reported and published cases of pericentric inversions, divided into two ascertainment groups: (I) those ascertained through recombinant offspring and (II) those ascertained through balanced heterozygotes. The distal segments in group II inversions were significantly larger than those of group I, i.e., the potentially larger chromosomal imbalances were not observed in full-term offspring. These results are discussed in relation to the model of risk of abnormal offspring in the progeny of heterozygotes for structural rearrangements (the chromosome imbalance size--viability model). The mean distal segment sizes for group I and group II pericentric inversions were respectively not significantly different from the mean interchange segment size for a sample of reciprocal translocations divided into the same two ascertainment groups. It was concluded that the restrictions on the size (% HAL) of chromosomal imbalance in offspring surviving until term are similar whether this imbalance arises from reciprocal translocations or pericentric inversions.

Citing Articles

Recombinant Chromosomes Resulting From Parental Pericentric Inversions-Two New Cases and a Review of the Literature.

Liehr T, Weise A, Mrasek K, Ziegler M, Padutsch N, Wilhelm K Front Genet. 2019; 10:1165.

PMID: 31798640 PMC: 6868022. DOI: 10.3389/fgene.2019.01165.

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

Hemmat M, Hemmat O, Anguiano A, Boyar F, Naggar M, Wang J Mol Cytogenet. 2013; 6(1):17.

PMID: 23639048 PMC: 3648413. DOI: 10.1186/1755-8166-6-17.

Unusual segregation products in sperm from a pericentric inversion 17 heterozygote.

Mikhaail-Philips M, McGillivray B, Hamilton S, Ko E, Chernos J, Rademaker A Hum Genet. 2005; 117(4):357-65.

PMID: 15924233 DOI: 10.1007/s00439-004-1245-0.

Direct evidence for suppression of recombination within two pericentric inversions in humans: a new sperm-FISH technique.

Jaarola M, Martin R, Ashley T Am J Hum Genet. 1998; 63(1):218-24.

PMID: 9634501 PMC: 1377224. DOI: 10.1086/301900.

Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

Shashi V, Golden W, Allinson P, Blanton S, Von Kap-Herr C, Kelly T Am J Hum Genet. 1996; 58(6):1231-8.

PMID: 8651300 PMC: 1915063.

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