Chromosome abnormalities in one thousand infertile males with nonobstructive sperm disorders

Elghezal, Hatem; Hidar, Samir; Braham, Rafik; Denguezli, Walid; Ajina, Mounir; Saâd, Ali

doi:10.1016/j.fertnstert.2006.04.041

Cited by 56 publications

(59 citation statements)

References 25 publications

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“…The vast majority of autosome abnormalities in the infertile population was chromosome translocations, which could cause the loss of genetic material at the break points of genes and corrupt the genetic message [5]. Our findings support the previous notion that abnormalities in sex chromosomes are primarily found in azoospermic patients, while balanced autosomal are the most frequent abnormalities in oligozoospermic males [10].…”

Section: Discussionsupporting

confidence: 89%

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Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Xiong

Ding

et al. 2012

J Assist Reprod Genet

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Purposes To investigate the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions and analyze their association with defective spermatogenesis in Chinese infertile men. Methods This is a single center study. Karyotyping using G-banding and screening for Y chromosome microdeletion by multiplex polymerase chain reactio(PCR)were performed in 200 controls and 1,333 infertile men, including 945 patients with non-obstructive azoospermia and 388 patients with severe oligozoospermia. Results Out of 1,333 infertile patients, 154(11.55%) presented chromosomal abnormalities. Of these, 139 of 945 (14.71%) were from the azoospermic and 15 of 388 (3.87%) from the severe oligozoospermic patient groups. The incidence of sex chromosomal abnormalities in men with azoospermia was 11.53% compared with 1.03% in men with severe oligozoospermia (P < 0.01). Also 144 of 1,333 (10.80%) patients presented Y chromosome microdeletions. The incidence of azoospermia factor(AZF) microdeletion was 11.75% and 8.51% in patients with azoospermia and severe oligozoospermia respectively. Deletion of AZFc was the most common and deletions in AZFa or AZFab or AZFabc were found in azoospermic men. In addition, 34 patients had chromosomal abnormalities among the 144 patients with Y chromosome microdeletions. No chromosomal abnormality and microdeletion in AZF region were detected in controls. Conclusions There was a high incidence (19.80%) of chromosomal abnormalities and Y chromosomal microdeletions in Chinese infertile males with azoospermia or severe oligozoospermia. These findings strongly suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.

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Section: Discussionsupporting

confidence: 89%

“…oligozoospermia were found to have one or more chromosomal abnormalities, most of which were structural aberration of the autosome, such as robertsonian translocations, balanced translocations, inversions (pericentric or paracentric) [10].…”

Section: Introductionmentioning

confidence: 99%

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Xiong

Ding

et al. 2012

J Assist Reprod Genet

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“…A likely explanation is that chromosomal aberrations in male carriers may cause severe meiotic disturbances and spermatogenic arrest. Some chromosomal abnormalities (such as Robertsonian translocations) that are compatible with fertility in women may be associated with sterility in men 39. As has also been reported in other studies,9 reciprocal translocations were the most frequent balanced chromosomal anomalies detected in this study.…”

Section: Discussionsupporting

confidence: 88%

“…Some chromosomal abnormalities (such as Robertsonian translocations) that are compatible with fertility in women may be associated with sterility in men 39. As has also been reported in other studies,9 reciprocal translocations were the most frequent balanced chromosomal anomalies detected in this study. However, the most prevalent type of translocations in our study was D/G, whereas D/D translocation is the most common one reported in the literature 3…”

Section: Discussionsupporting

confidence: 88%

A cytogenetic study of couples with repeated spontaneous abortions

Shirin

Mehdipour

Farajpour

et al. 2011

Annals of Saudi Medicine

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BACKGROUND AND OBJECTIVE:The frequency of chromosomal aberrations in Iran is not definitely known. This study determined the frequency of chromosomal aberrations in a series of couples with two or more spontaneous abortions and compared the findings with that reported from other countries.METHODS:This was a descriptive study conducted on 100 couples with recurrent abortions. Both partners were karyotyped as part of the primary investigation. Other probable causes of abortion were also investigated.RESULTS:Chromosomal aberrations were found in 8 (8%) of the females and 5 (5%) of the males. The prevalence of chromosomal abnormalities was as follows: 4 (30.8%) balanced reciprocal translocations, 3 (23%) Robertsonian translocations, 3 (23%) pericentric inversions, 1 (7.7%) paracentric inversion, 1 (7.7%) chromosomal marker, and 1 (7.7%) polymorphism 9qh+.CONCLUSIONS:The pattern of chromosomal aberrations was similar to that reported in other studies, but the prevalence of chromosomal aberrations was higher.

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“…Reciprocal translocation is the most important problem in RM cases. Translocations are also found in infertile men, and thus, the frequency in women would be higher than that in men in RM cases after natural selection (Elghezal et al 2006).…”

Section: Discussionmentioning

confidence: 97%

Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement

Sugiura‐Ogasawara

Aoki²,

Fujii

et al. 2008

J Hum Genet

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Information concerning the prognosis of subsequent pregnancies in patients with reciprocal translocations is limited. This study was performed to determine the percentage success rate with first pregnancies after ascertainment of a carrier status. A total of 2,382 couples with a history of two or more consecutive miscarriages were studied in multicenters. The prevalence of an abnormal chromosome in either partner was examined, and subsequent success rates were compared between cases with and without an abnormal karyotype in either partner. A total of 129 couples (5.4%) had an abnormal karyotype in one partner excluding inversion 9 in 44 men and in 85 women. Thus, 2,253 couples had a normal karyotype in both partner. Eighty-five (3.6%) had translocations, 13 being Robertsonian translocations. Twenty-nine of the 46 cases (63.0%) who became pregnant with reciprocal translocations in either partner experienced a live birth with natural conception. In contrast, 950 of 1,207 cases (78.7%) with normal chromosomes had successful live births, the difference being significant (P = 0.019). No infant with an unbalanced translocation was found in 29 cases of successful pregnancy following recurrent miscarriage. Pregnancy prognosis was worsened with either maternal or paternal reciprocal translocations. Explanation of the success rate with natural conception should be provided before the subsequent pregnancy after ascertainment of carrier status.

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Chromosome abnormalities in one thousand infertile males with nonobstructive sperm disorders

Cited by 56 publications

References 25 publications

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

A cytogenetic study of couples with repeated spontaneous abortions

Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement

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