scholarly journals Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China

2019 ◽  
Vol 47 (3) ◽  
pp. 1114-1123 ◽  
Author(s):  
Pingsen Zhao ◽  
Xiaodong Gu ◽  
Heming Wu ◽  
Xunwei Deng
Keyword(s):  
Cytogenetic Analysis ◽  
Southern China ◽  
Chromosome Abnormalities ◽  
Severe Oligozoospermia ◽  
Azfc Region ◽  
Azoospermia Factor ◽  
Region Duplication ◽  
Reproductive Techniques ◽  
Male Patients ◽  
Fertile Male

Objective To determine the prevalence of chromosome abnormalities and azoospermia factor (AZF) microdeletions in Hakka men with infertility in southern China. Methods Hakka male patients, who received clinical counselling for infertility between August 2016 and October 2017, and fertile male controls, were enrolled into this retrospective study. Patients diagnosed with infertility and controls underwent cytogenetic analysis by standard G-banding; AZF microdeletions were examined by multiplex polymerase chain reaction and capillary electrophoresis. Results Out of 918 male patients who received fertility counselling, 57 were diagnosed with infertility due to azoospermia or severe oligozoospermia. Of these infertile patients, 22.81% (13/57) carried chromosome abnormalities, with 47, XXY being the most common abnormal karyotype. In addition, 36.84% (21/57) presented with Y chromosome microdeletions, most frequently in the complete AZFc and partial AZFc region. Duplication of the AZFc region was found in three patients. No AZF microdeletions were found in 60 fertile male controls. Conclusion The high AZF microdeletion frequency in the current Hakka population suggests that AZF microdeletion analysis is essential in fertility screening, and combined with cytogenetic analysis, may influence the choice of assisted reproductive techniques and reduce the risk of inherited genetic disease.

scholarly journals Double Aneuploidy - A Rare Condition : Report of Two Cases

2015 ◽  
Vol 32 (3) ◽  
pp. 171-173
Author(s):  
Saequa Habib ◽  
Sultana Gulshana Banu ◽  
SM Shahedul Islam ◽  
Choudhury Ali Kawser
Keyword(s):  
Peripheral Blood ◽  
Cytogenetic Analysis ◽  
Trisomy 21 ◽  
Rare Condition ◽  
Chromosome Abnormalities ◽  
Banding Technique ◽  
Giemsa Banding ◽  
Rare Disorders ◽  
Phenotypic Features ◽  
Double Aneuploidy

The chance of two chromosome abnormalities occurring in one conceptus is rare. Here we report two cases of double aneuploidy with karyotype 48,XYY,+21 and 48,XXY,+21.The diagnosis was confirmed by cytogenetic analysis using peripheral blood followed by Giemsa banding technique. Clinically both the children had most of the phenotypic features of Trisomy 21. However phenotypic features of XYY were not present but the child with XXY had undescended right testis .The purpose of this communication is to report such rare disorders discovered as the result of the evaluation for Trisomy 21.J Bangladesh Coll Phys Surg 2014; 32: 171-173

Analysis of partial azoospermia factor c deletion andDAZcopy number in azoospermia and severe oligozoospermia

Andrologia ◽  
2016 ◽  
Vol 48 (9) ◽  
pp. 978-982 ◽  
Author(s):  
L. Alimardanian ◽  
K. Saliminejad ◽  
S. Razi ◽  
A. Ahani
Keyword(s):  
Severe Oligozoospermia ◽  
Azoospermia Factor ◽  
Factor C

Azoospermia factor microdeletions: occurrence in infertile men with azoospermia and severe oligozoospermia from China

Andrologia ◽  
2013 ◽  
Vol 46 (5) ◽  
pp. 535-540 ◽  
Author(s):  
Y.-S. Zhang ◽  
R.-L. Dai ◽  
R.-X. Wang ◽  
Z.-H. Zhang ◽  
E. Fadlalla ◽  
...  
Keyword(s):  
Severe Oligozoospermia ◽  
Azoospermia Factor ◽  
Infertile Men

Severe Oligozoospermia Resulting From Deletions of Azoospermia Factor Gene on Y Chromosome

1996 ◽  
Vol 51 (11) ◽  
pp. 675-676
Author(s):  
Renee Reijo ◽  
Raaji K. Alagappan ◽  
Pasquale Patrizio ◽  
David C. Page
Keyword(s):  
Y Chromosome ◽  
Severe Oligozoospermia ◽  
Factor Gene ◽  
Azoospermia Factor

scholarly journals Azoospermia factor deletions in varicocele cases with severe oligozoospermia

2007 ◽  
Vol 61 (9) ◽  
pp. 505 ◽  
Author(s):  
Rima Dada ◽  
R Kumar ◽  
MB Shamsi ◽  
T Sidhu ◽  
A Mitra ◽  
...  
Keyword(s):  
Severe Oligozoospermia ◽  
Azoospermia Factor

scholarly journals A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Pille Hallast ◽  
Laura Kibena ◽  
Margus Punab ◽  
Elena Arciero ◽  
Siiri Rootsi ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Factors ◽  
Gene Dosage ◽  
Severe Oligozoospermia ◽  
Azoospermia Factor ◽  
Reproductive Decision Making ◽  
High Penetrance ◽  
Carrier Identification ◽  
Factor C ◽  
Spermatogenic Failure

Male infertility is a prevalent condition, affecting 5–10% of men. So far, few genetic factors have been described as contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal Azoospermia Factor c (AZFc) region, combined with gene dosage analysis of the multicopy DAZ, BPY2, and CDYgenes and Y-haplogroup determination. In analysing 2324 Estonian men, we uncovered a novel structural variant as a high-penetrance risk factor for male infertility. The Y lineage R1a1-M458, reported at >20% frequency in several European populations, carries a fixed ~1.6 Mb r2/r3 inversion, destabilizing the AZFc region and predisposing to large recurrent microdeletions. Such complex rearrangements were significantly enriched among severe oligozoospermia cases. The carrier vs non-carrier risk for spermatogenic failure was increased 8.6-fold (p=6.0×10−4). This finding contributes to improved molecular diagnostics and clinical management of infertility. Carrier identification at young age will facilitate timely counselling and reproductive decision-making.

Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?

2019 ◽  
Vol 158 (3) ◽  
pp. 121-125
Author(s):  
Stefano Tumini ◽  
Melissa Alfonsi ◽  
Silvia Carinci ◽  
Elisena Morizio ◽  
Ivana Antonucci ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Gene Mutations ◽  
Renal Dysplasia ◽  
Genetic Alterations ◽  
Vacterl Association ◽  
Severe Oligozoospermia ◽  
Azfc Region ◽  
Shh Pathway ◽  
Vertebral Defects

VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements and gene mutations. We report a boy with VACTERL association and shawl scrotum with bifid scrotum who presented with a de novo Yq11.223q11.23 microdeletion identified by array CGH. The deletion spans 3.1 Mb and encompasses several genes in the AZFc region, frequently deleted in infertile men with severe oligozoospermia or azoospermia. Herein, we discuss the possible explanation for this unusual genotype-phenotype correlation. We suggest that the deletion of the BPY2 (previously VCY2) gene, located in the AZFc region and involved in spermatogenesis, contributed to the genesis of the phenotype. In fact, BPY2 interacts with a ubiquitin-protein ligase, involved in the SHH pathway which is known to be implicated in the genesis of VACTERL association.

scholarly journals Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome

2014 ◽  
Vol 26 (2) ◽  
pp. 307 ◽  
Author(s):  
Byunghyuk Kim ◽  
Wonkyung Lee ◽  
Kunsoo Rhee ◽  
Soo Woong Kim ◽  
Jae-Seung Paick
Keyword(s):  
Y Chromosome ◽  
Pcr Assay ◽  
Azfc Region ◽  
Azoospermia Factor ◽  
Azfc Deletion ◽  
Deleted In Azoospermia ◽  
Polymerase Chain ◽  
Factor C ◽  
Human Y Chromosome ◽  
Daz Gene

The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to retain two of the four deleted in azoospermia (DAZ) genes on the Y chromosome. In the present study we determined the copy number and expression of DAZ genes in sY1191-negative individuals. Using a DAZ dosage PCR assay and Southern blot analysis we evaluated the expression of four DAZ genes in five of six sY1191-negative individuals. Furthermore, cloning and immunoblot analyses revealed that three or more DAZ genes are expressed in sY1191-negative testes with germ cells. The results indicate that the selective absence of sY1191 not only means b2/b3 deletion with two DAZ genes, but also includes another AZFc configuration with four DAZ genes. These results exemplify the prevalence of variations in the AZFc region of the human Y chromosome.

scholarly journals Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count

2011 ◽  
Vol 20 (12) ◽  
pp. 2457-2463 ◽  
Author(s):  
Michiel J. Noordam ◽  
G. Henrike Westerveld ◽  
Suzanne E. Hovingh ◽  
Saskia K.M. van Daalen ◽  
Cindy M. Korver ◽  
...  
Keyword(s):  
Copy Number ◽  
Sperm Count ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Motile Sperm ◽  
Azfc Region ◽  
Azoospermia Factor ◽  
Factor C ◽  
Total Motile Sperm Count

Histologic—cytogenetic correlations in uterine leiomyomas

1991 ◽  
Vol 1 (4) ◽  
pp. 163-168 ◽  
Author(s):  
N. Pandis ◽  
S. Heim ◽  
H. WillÉN ◽  
G. Bardi ◽  
U-M. FlodÉRus ◽  
...  
Keyword(s):  
High Power ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Clonal Evolution ◽  
Chromosome Abnormalities ◽  
Uterine Leiomyomas ◽  
Mitotic Figures

A total of 63 uterine leiomyomas were cytogenetically analyzed and, on neighboring tissue pieces, examined histologically. The tumors were dichotomized on the basis of their cellularity (29 normocellular and 34 hypercellular myomas) and on the absence (35 tumors) or presence (28 tumors) of mitoses (1–2 per 10 high-power fields). The cytogenetic analysis revealed normal karyotypes in 39 tumors and clonal chromosome abnormalities in 24. The latter group could be subdivided into cases with a single aberration (9 tumors), cases with more than one aberration but no subclones (8 tumors), and cases with multiple aberrations including subclones (7 tumors). Cytogenetically abnormal leiomyomas were more often hypercellular than cytogenetically normal tumors (17/24 = 71% versus 17/39 = 44%) and also more often had mitoses (16/24 = 67% versus 12/39 = 31%); these differences were statistically significant (p< 0.05). Within the group carrying chromosomal abnormalities, there was a direct linear tendency to the effect that karyotypically complex tumors were more often hypercellular and more often had mitotic figures: 4/9 = 44% of tumors with a single aberration were hypercellular and had mitoses compared with 5/8 = 63% for both parameters in the subgroup with several aberrations but only one clone. The cytogenetic subset characterized by the highest histologic activity were the 7 leiomyomas with clonal evolution giving rise to subclones; all these tumors were hypercellular and had mitoses.

Sign in / Sign up

Export Citation Format

Share Document