Cytogenetic and Genome Research

Novel Insights from Clinical Practice

El Fekih S.a,b· Gueganic N.a· Tous C.b· Douet-Guilbert N.a,b· Blesson S.c· Morel F.a,b· Perrin A.a,b

Author affiliations

aFaculty of Medicine and Health Sciences, University of Brest, EFS, UMR1078, GGB, Brest, France
bDepartment of Medical Genetics and Reproductive Biology, Brest University Regional Hospital, Brest, France
cDepartment of Genetics, Tours University Hospital, Tours, France

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Article / Publication Details

First-Page Preview

Received: December 20, 2021
Accepted: March 02, 2022
Published online: April 07, 2022

Number of Print Pages: 6
Number of Figures: 1
Number of Tables: 3

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

Abstract

Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that are difficult to identify by conventional cytogenetic techniques. sSMCs are 3.75 times more common in infertile men than in the general population. This study aimed at characterizing a supernumerary marker chromosome in a nonconsanguineous infertile couple and analyzing its meiotic segregation in sperm by multicolor FISH. The male partner’s karyotype was mos 47,XY,+idic(15)(pter→q11.1::q11.1→pter)[6]/46,XY[24].ish idic(15)(NOR+,D15Z3+,SNRPN–,D15Z3+,NOR+). In triple FISH using CEP 15, BAC 15, and BAC 21 probes, 4,227 spermatozoa of the patient were analyzed, and the sSMC was detected in only 0.66% of spermatozoa. In triple FISH employing CEP X, CEP Y, and BAC 18 probes, 2,008 spermatozoa of the patient were analyzed. The frequency of disomic and diploid sperm was not significantly different from control donors. To our knowledge, segregation of an sSMC 15 has been reported in only 9 males with non-mosaic karyotypes. These studies described rates of spermatozoa with sSMC 15 ranging from 6.23% to more than 50%. In this work, we report the first meiotic segregation analysis of a chromosome 15-derived sSMC in spermatozoa of a patient with a mosaic karyotype. The low rate of spermatozoa with sSMC detected is concordant with the low proportion of abnormal cells in our patient’s lymphocytes. Moreover, the risk of interference of this sSMC with other chromosomes seems minimal. Genetic counseling was recommended given that the risk of chromosomal imbalance in the fetus linked to paternal sSMC was very low. Finally, a healthy boy was born after a natural pregnancy.

© 2022 S. Karger AG, Basel

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First-Page Preview

Received: December 20, 2021
Accepted: March 02, 2022
Published online: April 07, 2022

Number of Print Pages: 6
Number of Figures: 1
Number of Tables: 3

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

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