Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization

Morel, Frédéric; Laudier, Béatrice; Guérif, Fabrice; Couet, ML; Royère, Dominique; Roux, Christophe; Bresson, Jean Luc; Amice, V.; Braekeleer, Marc De; Douet‐Guilbert, Nathalie

doi:10.1093/humrep/del317

Cited by 74 publications

(95 citation statements)

References 27 publications

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“…In the present study, the overall occurrence of chromosomal variants was 8.3% and included enlarged heterochromatin on the long arm of chromosome 9 (9qh+), pericentromeric inversion of chromosome 9 (9ph), and enlarged satellites of acrocentric chromosomes (14ps+, 15ps+, 21ps+, and 22ps+). Inversions (such as 9ph) can disturb spermatogenesis and lead to the production of unbalanced gametes through the formation of an inversion loop, even if the inverted region includes only heterochromatin (19). Enlarged heterochromatin (9qh+) could make synapse difficult and, as a consequence, may delay or prevent it.…”

Section: Commentsmentioning

confidence: 99%

Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service

Mafra¹,

Christofolini²,

Bianco³

et al. 2011

Int. braz j urol.

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Purpose: To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. Materials and Methods: Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine. Of these patients, 100 had severe oligozoospermia, and 43 non-obstructive azoospermia. All patients underwent a genetic study which included karyotype analysis and Y-microdeletion investigation. Results: Genetic abnormalities were found in 18.8% of the studied patients. Chromosomal abnormalities were found in 6.2% of the patients, being more prevalent in the azoospermia group (11.6%) than in the oligozoospermia group (4%). Chromosomal variants were found in 8.3%, and Y-chromosome microdeletions in 4.2% of patients. Conclusion: The high frequency of genetic alterations (18.8%) in our series justified performing a genetic investigation in a population with idiopathic infertility, as results may help determine the prognosis, as well as the choice of an assisted reproduction technique. Moreover, a genetic investigation could minimize the risk of transmitting genetic abnormalities to future generations such as genetic male infertility, mental retardation, genital ambiguity and/or birth defects.

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Section: Commentsmentioning

confidence: 99%

Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service

Mafra¹,

Christofolini²,

Bianco³

et al. 2011

Int. braz j urol.

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“…A similar result was observed in a inv(1) (p36.3q43) carrier with a large chromosome inversion. The inverted segment size was 95%, and the percentage of imbalanced gametes was 30.43% [Morel et al 2007]. Thus, the risk of recombination aneusomy in the offspring was high, consistent with two early miscarriages.…”

Section: Discussionmentioning

confidence: 87%

“…The rate of imbalanced recombinants seemed to be influenced by many factors, such as the chromosome involved, the region affected, the position of the breakpoints, or the size of the inverted segment [Anton et al 2005;Morel et al 2007]. The frequency of the recombinant gametes was plotted according to the relative length of the inverted segment of nine male carriers of a pericentric inversion of -chromosome 1.…”

Section: Discussionmentioning

confidence: 99%

Different segregation patterns in five carriers due to a pericentric inversion of chromosome 1

Luo

Sun

et al. 2014

Systems Biology in Reproductive Medicine

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Pericentric inversion can produce recombinant gametes; however, meiotic segregation studies on the relationship between the frequency of recombinants and the inverted segment size are rare. Triple-color fluorescence in situ hybridization (FISH) was performed to analyze the meiotic behavior in five inv(1) carriers with different breakpoints. Recombination gametes were absent in Patient 1, whereas the percentages of the recombinants in Patients 2, 3, 4, and 5 were of 9.2%, 15.3%, 17.3%, and 40.9%, respectively. A significant difference was present for the frequencies of the recombinant spermatozoa among the five patients (p50.001). For each patient, the frequency of the two types of recombinant gametes (dup(1p)/del(1q) or del(1p)/ dup(1q)) did not exhibit a significant difference in comparison with the expected 1:1 ratio (p40.05). The meiotic segregation of nine inv(1) carriers (including those presented in this paper) is now available. A significant correlation was discovered between the rate of recombination and the proportion of the chromosome implicated in the inversion (R ¼ 0.9435, p50.001). The frequency of the recombinant gametes was directly related to the proportion of the chromosome that was inverted. Sperm-FISH allowed an additional comprehension of the patterns of meiotic segregation and provided accurate genetic counseling.

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“…Very recently, Morel et al (2006) analysed the meiotic segregation in spermatozoa of six pericentric inversion carriers by multicolour FISH. This study includes a new pericentric inversion of chromosome 1 with the inverted segment size corresponding to 95% of the length of chromosome 1.…”

Section: Discussionmentioning

confidence: 99%

Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility

Chantot‐Bastaraud¹,

Ravel²,

Berthaut³

et al. 2006

MHR: Basic Science of Reproductive Medicine

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No phenotypic effect is observed in most inversion heterozygotes. However, reproductive risks may occur in the form of infertility, spontaneous abortions or chromosomally unbalanced children as a consequence of meiotic recombination between inverted and non-inverted chromosomes. An odd number of crossovers within the inverted segment results in gametes bearing recombinant chromosomes with a duplication of the region outside of the inversion segment of one arm and a deletion of the terminal segment of the other arm [dup(p)/del(q) and del(p)/dup(q)]. Using fluorescence in-situ hybridization (FISH), the chromosome segregation of a pericentric inversion of chromosome 1 was studied in spermatozoa of a inv(1)(p22q42) heterozygous carrier. Three-colour FISH was performed on sperm samples using a probe mixture consisting of chromosome 1p telomere-specific probe, chromosome 1q telomere-specific probe and chromosome 18 centromere-specific alpha satellite DNA probe. The frequency of the non-recombinant product was 80.1%. The frequencies of the two types of recombinants carrying a duplication of the short arm and a deletion of the long arm, and vice versa, were respectively 7.6 and 7.2%, and these frequencies were not statistically significant from the expected ratio of 1:1. Sperm-FISH allows the further understanding of segregation patterns and their effect on reproductive failure and allows an accurate genetic counselling.

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Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization

Cited by 74 publications

References 27 publications

Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service

Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service

Different segregation patterns in five carriers due to a pericentric inversion of chromosome 1

Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility

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