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Y Chromosom microdeletion

Yan Chao Wang, Xiao Yan Ma, Xiao Fang Sun, Jia Jia Xian, Shao Ying Li, Wen Zhi He, Xiao Man Wang, Qing Li
Y chromosomal short tandem repeat (Y-STR) typing is the most commonly used genetic technique in forensic studies. However, there may be a limit to the application of Y-STR in forensic science as Y-STR loci are subject to loss or variation caused by the higher chromosomal structures' spontaneous mutation rate. Located in the long arm of the Y chromosome, azoospermia factor (AZF) have been shown to participate in spermatogenesis and its deletion could cause infertility. However, little is known about the Y-STR dropout pattern in individuals with Y chromosome microdeletions...
March 20, 2019: Yi Chuan, Hereditas
Xiaoyu Xia, Xiaowei Zhou, Yanmei Quan, Yanqin Hu, Fengying Xing, Zhengzheng Li, Bufang Xu, Chen Xu, Aijun Zhang
Chromodomain Y (CDY) is one of the candidate genes for male dyszoospermia related to Y chromosome microdeletion (YCM). However, the function of CDY in regulating spermatogenesis has not been completely determined. The mouse Cdyl (CDY-like) gene is the homolog of human CDY. In the present study, we generated a germline conditional knockout (cKO) model of mouse Cdyl. Significantly, the CdylcKO male mice suffered from the defects in spermatogonia maintenance and spermatozoon morphogenesis, demonstrating teratozoospermia and a progressive infertility phenotype in early adulthood...
March 8, 2019: Cell Death & Disease
Moran Gershoni, Ron Hauser, Shimi Barda, Ofer Lehavi, Eli Arama, Shmuel Pietrokovski, Sandra E Kleiman
STUDY QUESTION: Are there genetic variants that can be used for the clinical evaluation of azoospermic men? SUMMARY ANSWER: A novel homozygous frame-shift mutation in the MEIOB gene was identified in three azoospermic patients from two different families. WHAT IS KNOWN ALREADY: Up to 1% of all men have complete absence of sperm in the semen, a condition known as azoospermia. There are very few tools for determining the etiology of azoospermia and the likelihood of sperm cells in the testis...
March 6, 2019: Human Reproduction
Fuat Kızılay, Bülent Semerci, Adnan Şimşir, Serdar Kalemci, Barış Altay
OBJECTIVE: There is no clear consensus on which patients and how many of microscopic testicular sperm extraction (mTESE) procedures will be successful. In this study, we aimed to evaluate the sperm retrieval rates and factors affecting these rates in men who underwent repeat mTESEs. MATERIAL AND METHODS: A total of 346 patients who underwent mTESE for sperm retrieval were included in the study. Patients were divided into groups according to the number of mTESE operations...
February 20, 2019: Turkish Journal of Urology
Sara Darbandi, Mahsa Darbandi, Hamid Reza Khorram Khorshid, Mohammad Reza Sadeghi, Mahnaz Heidari, Ghazaleh Cheshmi, Mohammad Mehdi Akhondi
OBJECTIVE: Studies showed a decrease of the semen analysis parameters and an increase in the average age of first-time fathers over the past several decades. The aim of the present study was to assess the influence of paternal age on semen quality and fertilization outcomes in men with normal sperm DNA fragmentation and chromatin maturation index (DFI and CMI), reactive oxygen species (ROS), and total antioxidant capacity (TAC) levels. MATERIAL AND METHODS: The study was performed on 70 men with their wife's age ≤38 years and normal sperm DFI, CMI, ROS, and TAC levels...
February 5, 2019: Turkish Journal of Urology
Marcin Cz Arniecki, Tristan Barrett, Nikesh Thiruchelvam, Oliver Wiseman
History A 28-year-old man presented with lifelong anejaculation, which had become an issue because of family planning. The patient had a history of normal erections and experienced the sensation of orgasm without ever ejaculating. On physical examination, both testes were present in the scrotum, with normal dimensions and a normal epididymis bilaterally. The patient had a slightly tender left testicle, and digital rectal examination findings were normal. The patient underwent further investigation for the possibility of retrograde ejaculation with urine cytology, the results of which were negative...
March 2019: Radiology
Attila Mokánszki, Anikó Ujfalusi, Éva Gombos, István Balogh
Purpose: The aim of this study was to establish the Y chromosome microdeletion and partial AZFc microdeletion/duplication frequency firstly in East Hungarian population and to gain information about the molecular mechanism of the heterogeneous phenotype identified in males bearing partial AZFc deletions and duplications. Materials and Methods: Exactly determined sequences of azoospermia factor (AZF) region were amplified. Lack of amplification was detected for deletion...
October 2018: Journal of Human Reproductive Sciences
P H Vogt, B Besikoglu, M Bettendorf, P Frank-Herrmann, J Zimmer, U Bender, S Knauer-Fischer, D Choukair, P Sinn, Y-F C Lau, P H Heidemann, T Strowitzki
STUDY QUESTION: Which Y genes mapped to the 'Gonadoblastoma Y (GBY)' locus on human Y chromosome are expressed in germ cells of individuals with some Differences of Sexual Development (DSD) and a Y chromosome in their karyotype (DSD-XY groups)? SUMMARY ANSWER: The GBY candidate genes DDX3Y and TSPY are expressed in the germ cells of DSD-XY patients from distinct etiologies: patients with mixed gonadal dysgenesis (MGD) and sex chromosome mosaics (45,X0/46,XY; 46,XX/46,XY); patients with complete androgen insensitivity (CAIS), patients with complete gonadal dysgenesis (CGD; e...
February 12, 2019: Human Reproduction
Tanya Kadiyska, Ivan Tourtourikov, Asen Petrov, Ani Chavoushian, Miglena Antalavicheva, Eva-Maria König, Eva Klopocki, Nikolova Vessela, Romil Stanislavov
Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and the subsequent array CGH identified an approximately 8-Mb-sized deletion in the 5q22.2q23.1 locus. Further analysis of the deleted region and the genes within suggested a possible role for the TSSK1B (testis-specific serine/threonine kinase 1) gene in the patient's reproductive capacity...
January 2019: Molecular Syndromology
Afreen Aftab, Thankam R Varma, Bibhas Kar
Presence of chromosomal anomalies is well known to be associated with reproductive failures where the incidence of chromosomal translocations is higher. Y:1 chromosomal translocations are reported to be rare and may have variable phenotypic effects such as infertility amongst others. The patient presented with azoospermia and dyslipidemia and coronary arterial disease. Cytogenetic tests such as karyotyping revealed the translocation, and fluorescent in situ hybridisation was performed to investigate the presence or absence of SRY gene...
February 3, 2019: Andrologia
Ting Liu, Yu-Xin Song, Yong-Mei Jiang
The microdeletions of azoospermia factor (AZF) genes in Y chromosome are greatly associated with male infertility, which is also known as the second major genetic cause of spermatogenetic failure. Accumulating studies demonstrate that the different type of AZF microdeletions in patients reflect different clinical manifestations. Therefore, a better understanding of Y chromosome microdeletions might have broad implication for men health. In this study, we sought to determine the frequency and the character of different Y chromosome microdeletion types in infertile men in southwest of China...
February 2019: Medicine (Baltimore)
Michael Muriello, Alexander Y Kim, Krista Sondergaard Schatz, Natalie Beck, Meral Gunay-Aygun, Julie E Hoover-Fong
We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. In addition to expanding the phenotype of Feingold 2 syndrome, we suggest management of patients with Feingold 2 syndrome include echocardiography at the time of diagnosis in all patients and consideration of evaluation for growth hormone deficiency in patients with short stature...
January 23, 2019: American Journal of Medical Genetics. Part A
Pingsen Zhao, Xiaodong Gu, Heming Wu, Xunwei Deng
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...
January 7, 2019: Journal of International Medical Research
Takafumi Matsumura, Tsutomu Endo, Ayako Isotani, Masaki Ogawa, Masahito Ikawa
About 10% of male infertile patients show abnormalities in spermatogenesis. The microdeletion of azoospermia factor a (AZFa) region of the Y chromosome is thought to be a cause of spermatogenic failure. However, candidate gene responsible for the spermatogenic failure in AZFa deleted patients has not been elucidated yet. Using mice, we explored the function of Ddx3y, a strong candidate gene in the AZFa region, and Ddx3x, a Ddx3y paralog on the X chromosome, in spermatogenesis. We first generated Ddx3y KO male mice using CRISPR/Cas9 and found that the Ddx3y KO male mice show normal spermatogenesis, produce morphologically normal spermatozoa, and sire healthy offspring...
January 7, 2019: Journal of Reproduction and Development
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
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