title: Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men.
abstract: To assess the frequency of chromosomal aberrations in French candidates for intracytoplasmic sperm injection (ICSI), and to explore the existence of a female chromosomal factor in some cases of couple infertility, a collaborative retrospective clinical and cytogenetic study was performed, launched by the Association des Cytogénéticiens de Langue Franciaise (ACLF). The karyotypes of 3208 patients [2196 men (68.4%), 1012 (31.6%) women] included in ICSI programmes over a 3-year period in France were collected. A total of 183 aberrant karyotypes was diagnosed, corresponding to an abnormality frequency of 6.1% (134/2196) for men and 4.84% (49/1012) for women. The following frequencies of abnormalities were observed respectively for men and women: 1.23% (n = 27) and 0.69% (n = 7) for reciprocal translocations, 0.82% (n = 18) and 0.69% (n = 7) for Robertsonian translocations, 0.13% (n = 3) and 0.69% (n = 7) for inversions, 3.32% (n = 73) and 2.77% (n = 28) for numerical sex chromosome aberrations, and 0.59% (n = 13) and 0% for other structural aberrations. Among the male patients of this latter group, 0.40% (n = 9) had a Y chromosome abnormality. Among the male patients with numerical sex chromosome abnormalities, 2.23% (n = 49) were 47,XXY, 0.32% (n = 7) were 47,XYY, and 0.77% (n = 17) had a mosaicism for numerical sex chromosome anomalies. All the female patients with sex chromosome abnormalities (2.77%, n = 28) had mosaicism for numerical sex chromosome anomalies. Even if these cases-the significance of which was sometimes questioned-were disregarded in the analysis, 2.08% (21/1012) of abnormal karyotypes remained in women. An overall increased frequency of chromosomal aberrations was found, and this confirmed that in some cases of poor reproductive outcome there may be a contribution of maternal chromosome aberrations. Indeed, the existence of a chromosome abnormality in the female partner was associated with the group of infertile men in which there was no apparent cause of infertility.
authors.affiliation: Department of Cytogenetics, University Hospital of Amiens, Italy.
authors.forename: J
authors.initials: J
authors.lastname: Gekas
authors.forename: F
authors.initials: F
authors.lastname: Thepot
authors.forename: C
authors.initials: C
authors.lastname: Turleau
authors.forename: J P
authors.initials: JP
authors.lastname: Siffroi
authors.forename: J P
authors.initials: JP
authors.lastname: Dadoune
authors.forename: S
authors.initials: S
authors.lastname: Briault
authors.forename: M
authors.initials: M
authors.lastname: Rio
authors.forename: G
authors.initials: G
authors.lastname: Bourouillou
authors.forename: F
authors.initials: F
authors.lastname: Carré-Pigeon
authors.forename: R
authors.initials: R
authors.lastname: Wasels
authors.forename: B
authors.initials: B
authors.lastname: Benzacken
mesh_terms: D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D005260:Female; D005602:France; D006801:Humans; D007246:Infertility / Q000235:genetics* / Q000628:therapy*; D008297:Male; D009030:Mosaicism / Q000235:genetics; D012189:Retrospective Studies; D012307:Risk Factors; D012737:Sex Factors; D020554:Sperm Injections, Intracytoplasmic; D013094:Spermatozoa / Q000002:abnormalities; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics