Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China

Abstract

Objective: The objective was to investigate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia to ensure appropriate genetic counseling before assisted reproduction in Eastern China. Methods: A total of 201 infertile men (148 with azoospermia and 53 with oligozoospermia) were enrolled. Real-time PCR using six Y-specific sequence-tagged sites of the azoospermia factor (AZF) region was performed to screen for microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. Results: Out of 201 infertile patients, 22 (10.95%) had Y microdeletions [17/148 (11.49%) men with azoospermia and 5/53 (9.43%) men with oligozoospermia]. The most frequent microdeletions were in the AZFc region, followed by the AZFaþb þ c, AZFbþc, AZFa, and AZFb regions. Chromosomal abnormalities were detected in 18.91% (38/201) of patients, 34 of which were sex chromosome abnormalities (16.92%) and 4 of which were autosomal abnormalities (1.99%). Chromosomal abnormalities were more prevalent in men with azoospermia (22.97%) than in those with oligozoospermia (7.55%). Conclusions: We detected a high incidence of chromosomal abnormalities and Y chromosomal microdeletions in infertile Chinese men with azoospermia and oligozoospermia. These findings suggest the need for genetic testing before the use of assisted reproduction techniques.

Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub‐region in infertile Iraqi patients with azoospermia and severe oligozoospermia

“…These findings were in agreement with the findings of Dutta et al 27 and in contrast with the results of Elsaid et al 26 Also, in line with our findings, Sha et al 28 from China, Asadi et al 30 from Iran, and Kim et al 31 from Korea, reported higher prevalence of AZFa microdeletions in patients with azoospermia than in those with oligozoospermia. Although in this study, AZFa microdeletion was found in both groups, but in previous studies from Egypt, 16 , 32 India, 27 China, 29 Iran, 30 and Korea, 31 it was identified only in the azoospermia patients, which was contrary to this research.…”

Estimating chromosome sizes from karyotype images enables validation of de novo assemblies

“…To evaluate the performance of KICS, we compiled two datasets called H uman8 and D iversity : The H uman8 dataset consists of 367 chromosomes from eight karyotype images (named karyotype A-H) of human individuals found in figure 1 of [43]. These karyotype images were acquired in clinical research and contain structural defects (translocations and deletions) in eight chromosomes.…”

Estimating chromosome sizes from karyotype images enables validation of de novo genome assemblies

“…To evaluate the performance of KICS, we compiled two datasets called HUMAN8 and DIVERSITY: The HUMAN8 dataset consists of 367 chromosomes from eight karyotype images (named karyotype A-H) of human individuals found in figure 1 of [35]. These karyotype images were acquired in clinical…”