The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients

Godoy, Gleice Cristina dos Santos; Galera, Bianca Borsatto; Araújo, Claudinéia de; Barbosa, Jacklyne Silva; Pinho, Max Fernando de; Galera, Marcial Francis; Yamamoto, Márcia Marly Winck

doi:10.4137/cmrh.s15475

Cited by 7 publications

(5 citation statements)

References 62 publications

(160 reference statements)

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“…Moreover, these CNVs were distributed throughout the genome, with few chromosomes showing no detectable alterations, indicating robust clinical representation within our cohort. The absence of CNVs on chromosomes 3, 8, 14, 21, and Y in our study could be attributed to their low incidence rate and the association with intellectual disabilities [ 29 – 33 ]. However, due to limited cases of intellectual disabilities in our cohort, further exploration of these associations was challenging.…”

Section: Discussionmentioning

confidence: 67%

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

Zeng,

Ding,

Wang

et al. 2024

J Transl Med

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Background Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinical exome sequencing (CES) in detecting CNVs, particularly small ones, remains incompletely understood. We aimed to evaluate the detection of both large and small CNVs using CES in a substantial clinical cohort, including parent–offspring trios and proband only analysis. Methods We conducted a retrospective analysis of CES data from 2428 families, collected from 2018 to 2021. Detected CNV were categorized as large or small, and various validation techniques including chromosome microarray (CMA), Multiplex ligation-dependent probe amplification assay (MLPA), and/or PCR-based methods, were employed for cross-validation. Results Our CNV discovery pipeline identified 171 CNV events in 154 cases, resulting in an overall detection rate of 6.3%. Validation was performed on 113 CNVs from 103 cases to assess CES reliability. The overall concordance rate between CES and other validation methods was 88.49% (100/113). Specifically, CES demonstrated complete consistency in detecting large CNV. However, for small CNVs, consistency rates were 81.08% (30/37) for deletions and 73.91% (17/23) for duplications. Conclusion CES demonstrated high sensitivity and reliability in CNV detection. It emerges as an economical and dependable option for the clinical CNV detection in cases of developmental abnormalities, especially fetal structural abnormalities.

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Section: Discussionmentioning

confidence: 67%

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

Zeng,

Ding,

Wang

et al. 2024

J Transl Med

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“…This could be related to the necessity to evaluate a larger population group because the frequencies of microdeletions have a wide range of incidence that goes from 1% [ 16 ] to 55% [ 17 ] around the world. Likewise, microdeletions studies must be evaluated in different geographic areas in a given region to estimate the variations in microdeletions frequencies in a population [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

First report of frequencies of Y chromosome microdeletions at a reproductive medicine center in Peru

Gavilan,

Vivar,

Núñez

et al. 2023

Heliyon

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“…While the frequency of chromosomal anomalies in the general population is approximately 0.6%-4%, it is reported as 2%-14% in male infertility cases (18). 5-15% of men with azoospermia or severe oligozoospermia have chromosomal abnormalities in an another study (7,39,40). In azoospermic men; The most common chromosomal abnormalities are Robertsonian translocations, inversions and Klinefelter syndrome (KS) (7,41,42).…”

Section: Discussionmentioning

confidence: 99%

Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients

YAVAŞ,

DOĞAN,

ERÖZ

et al. 2023

Konuralp Tıp Dergisi

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Objective: Genetic testing for male infertility is rarely performed in our country. Male infertility is caused by chromosome number or structural problems, Y chromosome deletions and gene alterations. Infertility is a problem seen in 15% of couples. Genetic causes are responsible for the etiology of 3-10% of those diagnosed with male infertility due to oligozoospermia and azoospermia. In this retrospective study, we aimed to determine both the chromosomal structure and the microdeletion of the azoospermic factor (AZF) region on the Y chromosome in infertile men admitted to our center before the application of assisted reproductive techniques. Method: We studied 327 patients who applied to our laboratory for routine analysis. Chromosome analysis was performed from peripheral blood by conventional cytogenetic method. DNA was isolated from peripheral blood and Y chromosome microdeletion was analyzed by fragment analysis method with Y chromosome microdeletion detection kit. Results: Out of 327 patients, 32 had cytogenetic and 18 had molecular abnormalities and 4 had both cytogenetic and molecular abnormalities. Numerical and structural anomalies were detected in patients with anomalous karyotype. Among the patients with Y microdeletions, 1 patient had AZFa, 2 patient had AZFb, 6 patients had AZFc, 3 patients had AZFc+d, 2 patients had AZFb+c+d, 1 patient had AZFb+c+sY160, 1 patient had AZFa+b+d+c+sY90, and 2 patient had AZFb+d+c+sY90. Conclusion: Our study shows that chromosomal abnormalities and Y chromosome microdeletions are important causes of male infertility and that chromosome analysis and Y chromosome microdeletion tests should be performed to explain these abnormalities. It also emphasizes the importance of genetic counseling in explaining male infertility.

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The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients

Cited by 7 publications

References 62 publications

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

First report of frequencies of Y chromosome microdeletions at a reproductive medicine center in Peru

Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients

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