Meiotic segregation in males heterozygote for reciprocal translocations: analysis of sperm nuclei by two and three colour fluorescence in situ hybridization

Rousseaux, Sophie; Chevret, Edith; Monteil, Michèle; Cozzi, J.; Pelletier, R.; Devillard, Françoise; Lespinasse, James; Sèle, B

doi:10.1159/000134118

Cited by 60 publications

(48 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Furthermore, the mean number of spermatozoa analyzed in our series was 126±36 for the ICSI selected sample and 82±41 for MSOME; both numbers were much higher than that previously reported (9±7) [10]. Even though the effect on spermatogenesis varies from one type of translocation to another [29], there are also significant inter-individual variations for a given translocation [2,14,22]. In infertile populations with implantation failure, the use of IMSI reportedly increases the pregnancy rate.…”

Section: Discussioncontrasting

confidence: 55%

High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations

Chelli

Ferfouri

Boitrelle

et al. 2013

J Assist Reprod Genet

View full text Add to dashboard Cite

Problem This study sought to evaluate the value of motile sperm organelle morphology examination (MSOME) for selecting euploid spermatozoa in six patients who were heterozygous for a reciprocal translocation. Method of study We used sperm fluorescence in situ hybridization (FISH) to screen for aneuploidy of the chromosomes involved in the translocations and a putative interchromosomal effect (ICE) for chromosomes 18, X and Y. This procedure was performed on (i) whole sperm (i.e. no selection) and on normal spermatozoa selected (ii) at a magnification typically used for intracytoplasmic sperm injection (ICSI), referred to as "ICSIlike", and (iii) with MSOME. Results The balanced translocation rates did not differ significantly (p=0.81) when comparing whole sperm (57.2 %) with spermatozoa after ICSI-like selection (56.3 %) or after MSOME (53.7 %). Similarly, the aneuploidy rates for ICEs did not differ significantly (p=0.14) when comparing whole sperm (1.9 %), ICSI-selected spermatozoa (3.4 %) and MSOME-selected spermatozoa (1.0 %). Conclusion For patients who are heterozygous for reciprocal translocations, MSOME does not improve the selection of euploid spermatozoa.

show abstract

Section: Discussioncontrasting

confidence: 55%

High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations

Chelli

Ferfouri

Boitrelle

et al. 2013

J Assist Reprod Genet

View full text Add to dashboard Cite

show abstract

“…Sperm karyotypes are able to evaluate separately the result of the different segregation modes. FISH studies in dual colour, using in most cases centromeric probes for the chromosomes involved in the translocation, do not allow to differentiate alternate and adjacent-1 segregants (Spriggs and Martin 1994;Rousseaux et al 1995;Mennicke et al 1997;Estop et al 1997;Mercier et al 1998;Giltay et al 1999). One exception was the translocation (7;8)(q11;q21;cen) reported by Mercier et al (1998).…”

Section: Discussionmentioning

confidence: 99%

Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier

et al. 2003

View full text Add to dashboard Cite

luorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier Abstract A couple was referred for exploration of repetitive abortions. The man was found to be a carrier of a balanced reciprocal translocation t(9;10)(q11;p11.1). The meiotic segregation of chromosomes 9 and 10 was analysed in 5,157 spermatozoa from this translocation carrier and in 15,255 spermatozoa from three control donors using three-colour fluorescence in situ hybridisation (FISH). The theoretical viability of the different segregation patterns was performed using the computer system HC Forum developed by the Department of Cytogenetics at the Grenoble University Medical School, La Tronche, France. A normal or balanced constitution was found in 56.25% of the analysed spermatozoa. The tertiary 3:1 segregation mode was the most frequently observed (14.37%). The frequencies of adjacent-1, adjacent-2 and 3:1 interchange modes were 12.85, 9.38 and 7.14% respectively. The cumulative frequency of nonviable imbalance was estimated at 20.91% according to the theorical viability of the different segregation patterns. Spermatozoa aneuploidy frequency was also evaluated for chromosomes X, Y and 18, and there was no evidence of interchromosomal effect in spermatozoa from the translocation carrier. FISH analysis of spermatozoa in combination with the viability theorical estimation of the different segregation patterns could be considered a useful tool for genetic counselling in carriers of reciprocal translocation.

show abstract

“…An interchromosomal effect has been principally suggested to occur in individuals affected with chromosomal translocations (Rousseaux et al 1995, Oliver-Bonet et al 2001, Blanco et al 2003, Morel et al 2004. In addition, studies performed in trisomic 21 oocytes suggested the existence of an interference for the homologue pairing process in chromosome 13 due to the presence of an extra chromosome 21 (Cheng et al 1998).…”

Section: Homologue Pairing Process In Aneuploid Oocytesmentioning

confidence: 99%

Pairing and synapsis in oocytes from female fetuses with euploid and aneuploid chromosome complements

Robles¹,

Roig²,

Garcia³

et al. 2007

Reproduction

View full text Add to dashboard Cite

Only little is known about the meiotic prophase events in human oocytes, although some of them are involved in the origin of aneuploidies. Here, a broad study of the pairing and synaptic processes in 3263 human euploid and 2613 aneuploid oocytes (47,XX,C21 and 47,XX,C13), using different techniques and methods, is presented in order to elucidate the characteristics of this essential meiotic process. Our results reaffirm the existence of a common high efficiency in the pairing process leading to the obtainment of a bivalent for all chromosomes studied in euploid and aneuploid cases. Nevertheless, this high efficiency was insufficient to consistently produce trivalents in aneuploid oocytes. Trivalent 21 was only observed in 48.8% of the 47,XX,C21 pachytene-stage oocytes studied, and trivalent 13 was found in 68.7% of the 47,XX,C13 pachytene-stage oocytes analyzed. Our data confirm the hypothesis which suggests that in human oocytes the presence of an extra chromosome could interfere in bouquet dynamics. In addition, the pairing process of the X chromosome is altered in trisomic 21 oocytes, providing evidence of the influence that an extra chromosome 21 may cause meiotic progression.

show abstract

Meiotic segregation in males heterozygote for reciprocal translocations: analysis of sperm nuclei by two and three colour fluorescence in situ hybridization

Cited by 60 publications

References 11 publications

High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations

High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations

Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier

Pairing and synapsis in oocytes from female fetuses with euploid and aneuploid chromosome complements

Contact Info

Product

Resources

About