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Y Chromosom microdeletion

S X Tang, H L Zhou, Y L Ding, P Yang, Q Chen, X Chen
Objectives: To analyze the factors affecting the patency rate of microsurgical single-stitch longitudinal intussusception vasoepididymostomy and to explore the possible causes of failure. Methods: The clinical data of 87 patients with epididymal obstructive azoospermia who underwent microsurgical vasoepididymostomy from January 2015 to February 2018 in the First Affiliated Hospital of Fujian Medical University were analyzed retrospectively. We observed the patency rate postoperatively and evaluated several factors that possibly related to the patency rates...
December 11, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Xuejiao Chen, Meizhen Dai, Ying Zhu, Zhehang He, Yang Zhang, Yihong Pan, Weiwu Shi
OBJECTIVE: To delineate cytogenetic and molecular abnormalities of a fetus carrying a de novo 46,X,der(X),t(X;Y)(p22.3;p11.2). METHODS: G-banded karyotyping and next-generation sequencing (NGS) were used to analyze the fetus, his father and sister. Single nucleotide polymorphism-based arrays (SNP-array), multiple PCR and fluorescence in situ hybridization (FISH) were utilized to verify the result. RESULTS: G-banded karyotyping at 320 bands showed that the fetus had a normal karyotype, while NGS has identified a 3...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
F Sciarra, M Pelloni, F Faja, F Pallotti, G Martino, A F Radicioni, A Lenzi, F Lombardo, D Paoli
PURPOSE: The aim of this study was to study the incidence of Y chromosome microdeletions in a Caucasian population of Klinefelter syndrome (KS) patients and to investigate the possible association between Y chromosome microdeletions and KS. MATERIALS AND METHODS: We conducted a retrospective study on 118 KS patients, 429 patients with non-obstructive azoospermia (NOA), and 155 normozoospermic men. Eight of the 118 KS patients had undergone testicular sperm extraction (TESE)...
November 29, 2018: Journal of Endocrinological Investigation
Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, Laila C Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C S Nagamani, Sau Wai Cheung, Philippe M Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A Tarnopolsky, David J Callen, A Micheil Innes, Susan M White, Wendy S Meschino, Andrew Y Shuen, Guillaume Paré, Dennis E Bulman, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Raoul C Hennekam, Kym M Boycott, Charles E Schwartz, Bekim Sadikovic
Coffin-Siris and Nicolaides-Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures in individuals with various subtypes of CSS (ARID1B, SMARCB1, and SMARCA4) and NCBRS (SMARCA2). We demonstrate that the degree of similarity in the epi-signatures of some CSS subtypes and NCBRS can be greater than that within CSS, indicating a link in the functional basis of the two syndromes...
November 20, 2018: Nature Communications
A M Mohamed, H T El-Bassyouni, A M El-Gerzawy, S A Hammad, N A Helmy, A K Kamel, S I Ismail, M Y Issa, O Eid, M S Zaki
Background: Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to verify the correlation between genotype/phenotype in a patient with 1q43q44 deletion associated with 4q32.1q35.2 duplication. Case presentation: We report on a 3 year-old female patient with delayed motor and mental milestones, MIC and facial dysmorphism...
2018: Molecular Cytogenetics
Muhammad Jaseem Khan, Nijole Pollock, Huaiyang Jiang, Carlos Castro, Rubina Nazli, Jawad Ahmed, Sulman Basit, Aleksandar Rajkovic, Alexander N Yatsenko
We performed whole exome sequencing to identify an unknown genetic cause of azoospermia and male infertility in a large Pakistani family. Three infertile males were subjected to semen analysis, hormone testing, testicular histology, ultrasonography, karyotyping, Y-chromosome microdeletion and CFTR testing. The clinical testing suggested a diagnosis of obstructive azoospermia (OA). To identify the cause, we performed whole exome sequencing (WES) for 2 infertile brothers and 2 fertile family members. For segregation analysis and variant confirmation, we performed Sanger sequencing...
November 2, 2018: Scientific Reports
Rafael S Yabiku, Mara S Guaragna, Lizandra M de Sousa, Helena Fabbri-Scallet, Taís N Mazzola, Cristiane S C Piveta, Marcela L de Souza, Gil Guerra-Júnior, Maricilda P de Mello, Andréa T Maciel-Guerra
A retrospective cross-sectional study was performed in a DSD clinic at a tertiary service (University Hospital) to estimate the frequency of disorders of sex development (DSD) among men who seek medical care because of infertility. The sample included 84 men >20 years of age referred from 2010-2017 due to oligozoospermia or nonobstructive azoospermia of unknown etiology. Twelve cases (14%) were diagnosed as DSD, including Klinefelter Syndrome, 46,XX testicular DSD, and mild androgen insensitivity syndrome...
October 30, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
X W Dai, Y Xu, L W Zheng, L Y Li, D D Li, X Tan, F Gao, Y Wang, G J Wu
OBJECTIVE: To explore the incidience of chromosome abnormality of the patients with oligozoospermia or azoospermia and male infertility, to discuss the relationship between the quantitative and structural abnormality of chromosome and to lay the foundation for the clinical diagnosis and consultation. METHODS: A retrospective analysis was conducted from January 1, 2015 to May 1, 2016, in the Center for Reproduction Medicine, the Second Hospital of Jilin University, with male reproductive abnormalities history excluded...
October 18, 2018: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Rosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, Hester Y Kroes, Sally Ann Lynch, Lara Hawkes, Maja Hempel, Bruce D Gelb, Jamal Ghoumid, Guylaine D'Amours, Kate Chandler, Christèle Dubourg, Sara Loddo, Zeynep Tümer, Charles Shaw-Smith, Mathilde Nizon, Michael Shevell, Evelien Van Hoof, Kwame Anyane-Yeboa, Gaetana Cerbone, Jill Clayton-Smith, Benjamin Cogné, Pierre Corre, Anniek Corveleyn, Marie De Borre, Tina Duelund Hjortshøj, Mélanie Fradin, Marc Gewillig, Elizabeth Goldmuntz, Greet Hens, Emmanuelle Lemyre, Hubert Journel, Usha Kini, Fanny Kortüm, Cedric Le Caignec, Antonio Novelli, Sylvie Odent, Florence Petit, Anya Revah-Politi, Nicholas Stong, Tim M Strom, Ellen van Binsbergen, Koenraad Devriendt, Jeroen Breckpot
Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2. To further delineate the phenotypic spectrum of the MEIS2-related syndrome, we collected 23 previously unreported patients with either a de novo sequence variant in MEIS2 (9 patients), or a 15q14 microdeletion affecting MEIS2 (14 patients)...
October 5, 2018: European Journal of Human Genetics: EJHG
Yuan Pan, Lei-Lei Li, Yang Yu, Yu-Ting Jiang, Xiao Yang, Hong-Guo Zhang, Rui-Zhi Liu, Rui-Xue Wang
BACKGROUND Y chromosome microdeletions are usually de novo mutations, but in several cases, transmission from fertile fathers to infertile sons has been reported. MATERIAL AND METHODS We report 3 cases of infertile patients who inherited expanded Y chromosome microdeletions from their fathers, who carried b2/b3 subdeletion or duplication. The karyotype was analyzed using G-banding. High-throughput sequencing was used to detect AZF region microdeletions. RESULTS Cytogenetic analysis showed a normal karyotype 46,XY in patient 1 (P1), patient 2 (P2), and their fathers (F1 and F2)...
September 18, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
G J Wu, S Ma, L W Zheng, Y Xu, F H Meng, X W Dai
One case of family chromosomal karyotype with complex chromosomal translocation and male infertility was reported. This case is a male, 30 years old, Han nationality, who did not receive contraception for 3 years after marriage. The phenotype and intelligence of the patients were normal, and there were no abnormalities in the external genitalia. No abnormalities were found in the prostate and spermatic vein. There was no history of parotitis or testicular trauma, no history of smoking, drinking history, denial of harmful substances and history of radioactive contact...
August 18, 2018: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Mark Johnson, Amr Raheem, Francesco De Luca, Marcus Hallerstrom, Yasmeen Zainal, Sameer Poselay, Baharak Mohammadi, Amr Moubasher, Thomas Frederick Johnson, Asif Muneer, Philippa Sangster, David J Ralph
OBJECTIVE: To describe the prevalence of Y-chromosome microdeletions in a multi-ethnic urban population in London, UK. To also determine predictive factors and a clinical threshold for genetic testing in men with Y chromosome microdeletions. PATIENTS AND METHODS: A retrospective cohort study of 1473 men that were referred to a tertiary Andrology centre with male factor infertility between July 2004 and December 2016. All had a genetic evaluation, hormonal profile and 2 abnormal semen analyses...
August 16, 2018: BJU International
Zohreh Hojati, Elaheh Soleimanpour, Seyed-Morteza Javadirad, Mohammad Hossein Nasr-Esfahani
Background: KDM3A is a key epigenetic regulator that is expressed in the testis and is required for packaging and condensation of sperm chromatin. To this point, the association of the KDM3A gene and infertility has not been studied in human. The aim of this study was to screen any new mutation in KDM3A gene to explore more details of human male infertility. Methods: In this work, 150 infertile men (oligozoospermia and azoospermia) and 150 normal healthy fathers were studied...
July 28, 2018: Iranian Biomedical Journal
Mohammed M El Shafae, Jehan H Sabry, Eman G Behiry, Hanan H Sabry, Mona A Salim, Alaaeldin G Fayez
Background: The microdeletion events that occur in the Y chromosome-azoospermia factor ( AZF ) region may lead to dyszoospermia. Also, the deleted azoospermia ( DAZ ) gene on AZFc and autosomal deleted azoospermia like gene ( DAZL ) are suggested to represent impairment, so it is interesting to determine the independency pattern of the AZF region and DAZL gene in azoospermic patients. Aim: To study the molecular characterization of AZFc and DAZL in 64 idiopathic non-obstructed azoospermia patients and 30 sexually reproductive men...
2018: Application of Clinical Genetics
Emre Can Akınsal, Numan Baydilli, Munis Dündar, Oğuz Ekmekçioğlu
OBJECTIVE: To determine the frequencies and the characteristics of Y chromosome microdeletions in infertile males. MATERIAL AND METHODS: The records of 1616 infertile males were included in the study. The cases were divided into groups according to the infertility etiology and semen analysis. The frequencies and the characteristics of Y chromosome microdeletions were investigated in groups. RESULTS: Y chromosome microdeletion was detected in 54 (3...
September 2018: Turkish Journal of Urology
Bonny Patel, Sasha Parets, Matthew Akana, Gregory Kellogg, Michael Jansen, Chihyu Chang, Ying Cai, Rebecca Fox, Mohammad Niknazar, Roman Shraga, Colby Hunter, Andrew Pollock, Robert Wisotzkey, Malgorzata Jaremko, Alex Bisignano, Oscar Puig
PURPOSE: To develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols. METHODS: We developed a next-generation sequencing (NGS) gene panel consisting of 87 genes including promoters, 5' and 3' untranslated regions, exons, and selected introns. In addition, sex chromosome aneuploidies and Y chromosome microdeletions were analyzed concomitantly using the same panel. RESULTS: The NGS panel was analytically validated by retrospective analysis of 118 genomic DNA samples with known variants in loci representative of female and male infertility...
August 2018: Journal of Assisted Reproduction and Genetics
Mitra Ataei, Fatemeh Akbarian, Mahba Ataei Talebi, Peyman Dolati, Maryam Mobaraki, Abolfazl Faraji, Massoud Houshmand
Background/aim: Infertility is a main health issue. The human Y chromosome contains essential genes for spermatogenesis, especially those located on four major intervals defined as AZFa, AZFb, AZFc, and AZFd. A partial deletion of the AZFc region is reported as a significant risk factor for oligo-/azoospermia. The main purpose of this study was to investigate the prevalence of partial deletions in the AZFc region (gr/gr, b1/b3, and b2/b3) in Iranian oligozoospermic candidates for intracytoplasmic sperm injection...
April 30, 2018: Turkish Journal of Medical Sciences
Ardeshir Bahmanimehr, Shahryar Zeighami, Bahia Namavar Jahromi, Zahra Anvar, Mohammad Ebrahim Parsanezhad, Maryam Davari, Somayeh Montazeri
Background: Y chromosome deletions (YCDs) in azoospermia factor (AZF) region are associated with abnormal spermatogenesis and may lead to azoospermia or severe oligozoospermia. Assisted reproductive technologies (ART) by intracytoplasmic sperm injection (ICSI) and testicular sperm extraction (TESE) are commonly required for infertility management of patients carrying YCDs. The aim of this study was to estimate the frequency of YCDs, to find the most frequent variant in infertile men candidate for ART and to compare YCD distribution with a control fertile group...
July 2018: International Journal of Fertility & Sterility
Shinnosuke Kuroda, Kimitsugu Usui, Kohei Mori, Kengo Yasuda, Takuo Asai, Hiroyuki Sanjo, Hiroyuki Yakanaka, Teppei Takeshima, Takashi Kawahara, Haruka Hamanoue, Yoshitake Kato, Yasuhide Miyoshi, Hiroji Uemura, Akira Iwasaki, Yasushi Yumura
We report the case of a 46-year-old Chinese male patient who visited our clinic complaining of infertility. Semen analysis revealed azoospermia, and azoospermia factor c region partial deletion (b1/b3) was detected using Y chromosome microdeletion analysis. Testicular sperm extraction was performed after genetic counseling. The bilateral ductus deferens and a portion of the epididymis were absent, whereas the remaining epididymis was expanded. Motile intratesticular spermatozoa were successfully extracted from the seminiferous tubule...
March 2018: Clinical and Experimental Reproductive Medicine
Bibhas Kar, Subbiah Sivamani, Shankar Kundavi, Thankam Rama Varma
Objective: The present study outlines three cases of a Robertsonian translocation and the consequences for the initiation of pregnancy by intracytoplasmic sperm injection (ICSI). Three case histories are presented documenting structural chromosome abnormalities in infertile males. Materials and Methods: Semen analysis was performed according to the World Health Organization guidelines. Chromosome analysis was performed using G-banding. Y chromosome microdeletions were detected by multiplex polymerase chain reaction assays...
April 2018: Journal of Obstetrics and Gynaecology of India
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