Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

Zhang, M; Ht, Fan; Qs, Zhang; Xy, Wang; Yang, Xiao; Wj, Tian; Rw, Li

doi:10.4238/2015.december.8.7

Cited by 16 publications

(20 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The deletion of AZFc region was the most commonly type of microdeletion of AZF region (Li et al., ), and the microdeletion of AZFc region was detected in five cases in our study. Otherwise, AZFd deletions might be present with mild oligospermia or normal sperm counts with an abnormal sperm morphology such as a severe teratozoospermia phenotype (Zhang et al., ). Interestingly, we found one case with microdeletion in the AZFd region as well as SCOS.…”

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

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

show abstract

“…Carriers of reciprocal translocations, while phenotypically normal, may experience reduced fertility and spontaneous abortions (Harton and Tempest, 2012). Previous studies have reported the involvement of balanced reciprocal translocations on chromosome 7 in male infertility and recurrent miscarriage (Tharapel et al, 1985;Vozdova et al, 2013;Zhang et al, 2015c). In the current investigation, reciprocal translocation was identified in 82 (1.57%) infertile men, 14 of whom (17.07%) carried chromosome 7 translocations.…”

Section: Discussionmentioning

confidence: 99%

“…These effects are dependent on the specific chromosomes involved in the translocation, the locations of the breaks, and the frequency of chiasmata (Vozdova et al, 2008;Harton and Tempest, 2012;Godo et al, 2013). Previous reports have indicated the involvement of balanced reciprocal translocations of chromosome 7 in male infertility and recurrent miscarriage (Tharapel et al, 1985;Vozdova et al, 2013;Zhang et al, 2015c).…”

Section: Introductionmentioning

confidence: 99%

“…Some reciprocal translocation carriers suffer oligozoospermia or severe oligozoospermia (Zhang et al, 2015c), and couples in which the male partner carries such a chromosomal abnormality are at increased risk of recurrent abortion (Gaboon et al, 2015;Tunç et al, 2016). Reproductive outcome and sperm parameters, including the presence of aneuploidy, in male carriers have received increasing attention over recent years (Li et al, 2015;Pastuszek et al, 2015;Zhang et al, 2015b).…”

Section: Introductionmentioning

confidence: 99%

“…Ichioka et al (2005) identified breakpoints at 7q22 and 7q31 from a karyogram of a patient with non-obstructive azoospermia. In addition, most translocation breakpoints on chromosome 7 in men are associated with recurrent miscarriage (Kochhar and Ghosh, 2013;Zhang et al, 2015c;Tunç et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling

et al. 2016

View full text Add to dashboard Cite

ABSTRACT. Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in male infertility and recurrent miscarriage. A translocation breakpoint can occur within an important gene, interrupting its structure and leading to male infertility. However, clinical characteristics resulting from chromosome 7 translocation breakpoints have not been studied. Here, we report such breakpoints and their associated clinical features, to enable informed genetic counseling of carriers. Balanced reciprocal translocations were found in 1.57% of the tested patients. Among these 82 individuals, 14 (17.07%) carried a chromosome 7 translocation, of which, five presented with pregestational infertility and clinical manifestations of oligozoospermia or necrospermia, while nine presented with gestational infertility (i.e., were able to conceive, but often resulting in miscarriage). Breakpoints at 7q31 and 7q36 were associated with pregestational infertility, whereas those at 7p10, 7q21.2, 7q22, and 7q32 were connected to gestational infertility. However, the breakpoint at 7p15 was associated with both. Chromosome 7 translocation carriers with pregestational or gestational infertility should be counseled on chromosomal breakpoints and the various molecular technologies available for assisted reproduction.

show abstract

Two cases of complex balanced autosomal translocations associated with severe oligozoospermia

Sha

Mei

et al. 2018

Gene

View full text Add to dashboard Cite

Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

Cited by 16 publications

References 23 publications

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

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

Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling

Two cases of complex balanced autosomal translocations associated with severe oligozoospermia

Contact Info

Product

Resources

About