Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men

被引:147
作者
Gekas, J [1 ]
Thepot, F
Turleau, C
Siffroi, JP
Dadoune, JP
Wasels, R
Benzacken, B
机构
[1] Univ Hosp Amiens, Dept Cytogenet, Amiens, France
[2] Univ Hosp Amiens, Dept Reprod Med, Amiens, France
[3] Univ Hosp Necker Enfants Malad, Dept Cytogenet, Paris, France
[4] Univ Hosp Tenon, Dept Cytogenet, Paris, France
[5] Univ Hosp Tenon, Dept Reprod Med, Paris, France
[6] Univ Hosp Tours, Dept Human Genet, Tours, France
[7] Hosp Caen, Dept Cytogenet, Caen, France
[8] Univ Hosp Toulouse, Dept Human Genet, Toulouse, France
[9] Univ Hosp Reims, Dept Cytogenet, Reims, France
[10] Cytogen Lab Metz, Metz, France
[11] Univ Hosp Jean Verdier, Dept Cytogenet, Bondy, France
关键词
chromosomal aberration; female infertility; genetic counselling; intracytoplasmic sperm injection; male infertility;
D O I
10.1093/humrep/16.1.82
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
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 Cytogeneticiens de Langue Francaise (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 = 18) 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.
引用
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页码:82 / 90
页数:9
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