Cytogenetic Analysis of Sperm from a Man Heterozygous for a Pericentric Inversion, Inv (3) (p25q21)

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1991 May 1

PMID 2018037

Citations 11

Authors

R H Martin

Affiliations

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Abstract

Human sperm chromosomes were studied in a man heterozygous for a pericentric inversion of chromosome 3(p25q21). The pronuclear chromosomes were analyzed after in vitro penetration of golden hamster eggs. A total of 144 sperm were examined: 69.2% were chromosomally balanced and 30.8% were recombinant. Of the balanced complements, the proportion with a normal chromosome 3 (37.6%) was approximately equal to the proportion with an inverted 3 (31.6%). Of the recombinant complements, the proportion of sperm with a duplication q/deletion p (17.3%) was approximately equal to the reciprocal event of duplication p/deletion q (13.5%). The recombinant chromosome 3 with a duplication q and deletion p has been observed in several abnormal children, but the duplication p/deletion q has never been reported. My results demonstrate that both recombinant chromosomes are produced as expected from an unequal number of crossovers within an inversion loop. In all likelihood the duplication p/deletion q chromosome is an early embryonic lethal because of the amount of genetic material deleted. The proportions of X-bearing (48.9%) and Y-bearing sperm (51.1%) were not significantly different from the expected 1:1 ratio. There was no evidence for an interchromosomal effect. Of the three inversions studied by human sperm chromosome analysis, recombinant chromosomes have been observed only in this case.

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.

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.

Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13;q36) by sperm chromosome studies.

Navarro J, Benet J, Martorell M, Templado C, Egozcue J Am J Hum Genet. 1993; 53(1):214-9.

PMID: 8317486 PMC: 1682220.

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