Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

Li, Dingyang; Zhang, Hongguo; Wang, Ruixue; Zhu, Haibo; Li, Linlin; Liu, Ruizhi

doi:10.1007/s10815-012-9783-1

Cited by 28 publications

(27 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Chromosome 3 translocations are also often known to be involved in male infertility and recurrent pregnancy loss (11)(12)(13)22). Male factor infertility is divided into two types of reproductive failure: pregestational and gestational infertility (23). In this study, chromosome 3 translocation was found to be associated with two cases of pregestational and 10 cases of gestational infertility.…”

Section: Discussionmentioning

confidence: 65%

Translocation breakpoints of chromosome 3 in male carriers: a report oftwelve cases and a review of the literature

Zhang¹,

Li²,

Zhu³

et al. 2018

Turk J Med Sci

Self Cite

View full text Add to dashboard Cite

Background/aim: This study aimed to explore the breakpoints in chromosome 3 translocation and the clinical features present in male carriers to enable informed genetic counseling of these patients. Materials and methods: A total of 5235 men who were infertile or receiving counseling for infertility were recruited. Cytogenetic analyses were performed using G-banding. A search for translocations on chromosome 3 involved in male infertility was performed using PubMed, Google Scholar, and CNKI. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were also analyzed. Results: Among the 82 patients with balanced reciprocal translocations among 5235 male patients, 12 patients were carriers of chromosome 3 translocation: two presented with pregestational infertility, while 10 presented with gestational infertility. The breakpoint at 3p13 was related to pregestational infertility, whereas those at 3p23, 3q10, 3q12, 3q21, 3q25, and 3q29 were related to gestational infertility. By an analysis combining data from the literature, 63 carriers of chromosome 3 translocation were reviewed and all breakpoints at chromosome 3 were correlated with gestational infertility. Conclusion: All breakpoints at chromosome 3 were correlated with gestational infertility. The breakpoints at 3q12 and 3q29 were the most common. Carriers of chromosome 3 translocation should thus be counseled on the need for other chromosomal breakpoints and preimplantation genetic diagnosis or prenatal testing.

show abstract

Section: Discussionmentioning

confidence: 65%

Translocation breakpoints of chromosome 3 in male carriers: a report oftwelve cases and a review of the literature

Zhang¹,

Li²,

Zhu³

et al. 2018

Turk J Med Sci

Self Cite

View full text Add to dashboard Cite

show abstract

“…The incidence was 2.1%, and it was prominent in the chromosome abnormalities in our study. The most common chromosomal abnormality was the Klinefelter syndrome in the SCOS group, accounting for 66.7% (4/6), and one case mosaics (mos47,XXY/46,XY) was found in SCOS patient, supporting the theory that a superabundance of X chromosomes could affect the male‐determining function by inhibiting maturity, hence promoting degenerative changes in the testis convoluted tubule and thus affecting spermatogenesis (Akbari et al., ; Li et al., ). Moreover, a de novo 45, X/46, X, del (Y) mosaicism was detected in the MA group.…”

Section: Discussionmentioning

confidence: 81%

“…It has been shown that some chromosomal polymorphisms can be associated with habitual miscarriage, developmental early pregnancy loss, stillbirth, poor maternal history and cacospermia (Li et al., , ). Among the chromosomal alterations, polymorphic variants are known to occur in 2.7% of the general population.…”

Section: Discussionmentioning

confidence: 99%

Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy

Liu

Gao

et al. 2016

Andrologia

View full text Add to dashboard Cite

To investigate the frequency and types of genetic results in different testicular histology of patients with nonobstructive azoospermia (NOA), and correlated with hormones and sperm retrieval (SR), a retrospective study was conducted in 286 Chinese NOA patients who underwent testis biopsy and 100 age-matched fertile men as the control group. Chromosome karyotype analyses were performed by the peripheral blood chromosome G-band detection method. Screening of Y chromosome microdeletions of azoospermia factor (AZF) region was performed by polymerase chain reaction (PCR) amplification of 11 sequence-tagged sites (STS). The serum levels of follicle-stimulating hormone, luteinising hormone and testosterone (T) and the appearance of scrotal ultrasound were also obtained. In 286 cases of NOA, 14.3% were found to have chromosomal alterations. The incidence of chromosomal abnormality was 2.8%. Sex chromosomal abnormalities were seen in six cases (four cases of Klinefelter's syndrome (47, XXY) and two cases of mosaics). The incidence of polymorphic chromosomal variants was 3% in the normal group and 11.5% in the NOA group. In total, 15.7% of NOA patients were found to have AZF microdeletions and AZF (c + d) was the most frequent one. The results of hormone and SR were found to be significantly different among all testicular histological types, whereas no significant differences were found when it comes to genetic alterations. It is concluded that the rate of cytogenetic alterations was high in NOA patients. So screening for chromosomal alterations and AZF microdeletions would add useful information for genetic counselling in NOA patients with testis biopsy and avoid vertical transmission of genetic defects by assisted reproductive technology.

show abstract

“…The analysis for microdeletions revealed that sY254 and sY255 in AZFc were the most common deletion sites (Table 4). On the contrary, a study by Li et al (2012) in populations of northern Chinese has shown that AZFa and AZFb display deletion rates higher than that in AZFc. More samples should be studied to confirm this difference.…”

Section: Discussionmentioning

confidence: 89%

Infertility caused by male partners with genetic defects in Sichuan Province of China

Quan

Li²,

Ding³

et al. 2013

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping, and Origin 8.0 was used to analyze the prevalence of abnormalities. Additionally, patients with azoospermia, oligozoospermia, and oligoasthenozoospermia were analyzed using multiplex polymerase chain reaction to detect microdeletion in the AZF. We identified 387 patients with abnormal karyotypes, and the ratio was 7.61%. Among them were 175 patients with Klinefelter's syndrome, which was the most common numerical chromosomal abnormality and accounted for 45.22% of all chromosomal aberrations. The frequencies of increased satellites, balanced translocations, and Robertsonian translocations were 6.47, 7.00, and 3.62%, respectively. Multiplex polymerase chain reaction performed in 810 cases with azoospermia, oligozoospermia, and oligoasthenozoospermia found a ratio of AZF microdeletions of 4.94%. The finding suggests that chromosomal 6513 ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (4): 6512-6520 (2013) Infertility and genetic defects in Chinese male partners abnormalities and AZF deletion are main factors that result in male infertility. Detecting these common genetic variations is necessary in infertile men seeking assisted reproductive technology.

show abstract

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

Cited by 28 publications

References 18 publications

Translocation breakpoints of chromosome 3 in male carriers: a report oftwelve cases and a review of the literature

Translocation breakpoints of chromosome 3 in male carriers: a report oftwelve cases and a review of the literature

Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy

Infertility caused by male partners with genetic defects in Sichuan Province of China

Contact Info

Product

Resources

About