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Y Chromosom microdeletion

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https://www.readbyqxmd.com/read/30291340/heterozygous-loss-of-function-variants-of-meis2-cause-a-triad-of-palatal-defects-congenital-heart-defects-and-intellectual-disability
#1
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
https://www.readbyqxmd.com/read/30226219/natural-transmission-of-b2-b3-subdeletion-or-duplication-to-expanded-y-chromosome-microdeletions
#2
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
https://www.readbyqxmd.com/read/30122779/-a-complex-chromosome-translocation-with-male-infertility-of-karyotype-analysis-and-literature-review
#3
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
https://www.readbyqxmd.com/read/30113756/an-analysis-of-the-frequency-of-y-chromosome-microdeletions-and-the-determination-of-a-threshold-sperm-concentration-for-genetic-testing-in-infertile-men
#4
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
https://www.readbyqxmd.com/read/30053768/identification-of-two-novel-mutations-in-kdm3a-regulatory-gene-in-iranian-infertile-males
#5
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
https://www.readbyqxmd.com/read/30050315/independent-of-dazl-t54a-variant-and-azf-microdeletion-in-a-sample-of-egyptian-patients-with-idiopathic-non-obstructed-azoospermia
#6
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
https://www.readbyqxmd.com/read/29799410/the-frequencies-of-y-chromosome-microdeletions-in-infertile-males
#7
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...
November 8, 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/29779145/comprehensive-genetic-testing-for-female-and-male-infertility-using-next-generation-sequencing
#8
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
https://www.readbyqxmd.com/read/29714436/analysis-of-partial-azfc-gr-gr-b1-b3-and-b2-b3-deletions-in-iranian-oligozoospermia-candidates-for-intracytoplasmic-sperm-injection-icsi
#9
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
https://www.readbyqxmd.com/read/29707937/detection-of-y-chromosome-microdeletions-and-hormonal-profile-analysis-of-infertile-men-undergoing-assisted-reproductive-technologies
#10
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
https://www.readbyqxmd.com/read/29662826/an-infertile-patient-with-y-chromosome-b1-b3-deletion-presenting-with-congenital-bilateral-absence-of-the-vas-deferens-with-normal-spermatogenesis
#11
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
https://www.readbyqxmd.com/read/29662277/the-importance-of-cytogenetics-and-associated-molecular-techniques-in-the-management-of-patients-carrying-robertsonian-translocation-and-their-pregnancy-outcome-by-intracytoplasmic-sperm-injection
#12
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
https://www.readbyqxmd.com/read/29659827/a-mei1-homozygous-missense-mutation-associated-with-meiotic-arrest-in-a-consanguineous-family
#13
M Ben Khelifa, F Ghieh, R Boudjenah, C Hue, D Fauvert, R Dard, H J Garchon, F Vialard
Although meiotic arrest in males is observed in about 25% of azoospermic patients, pure homogeneous arrest in all seminiferous tubules is less frequent, and may be due to mutation of a single gene. However, given the large number of genes involved in meiosis, this gives rises to extensive genetic heterogeneity. Only two genetic abnormalities have been reported on a regular basis: the X-linked exonic TEX11 deletion, and the AZFb microdeletion on the Y chromosome. Other single gene defects were private and found in consanguineous families...
June 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29653000/-application-of-combined-chromosomal-karyotyping-and-bacs-on-beads-assay-for-the-prenatal-diagnosis-of-high-risk-gravida-from-ningbo
#14
Danhua Shi, Lichao Zhang, Qianqian Mao, Ying Zhou, Lingling Xu, Liping Lu, Wenbo Lu
OBJECTIVE: To assess the value of combined chromosomal karyotyping and BACs-on-Beads(BoBs) assay for the prenatal diagnosis of high risk gravida from Ningbo. METHODS: For 2779 women, results of conventional karyotyping analysis and BoBs assay were compared. RESULTS: For common aneuploidies involving chromosomes 13, 18, 21, X and Y, the two methods have yielded a concordance rate of 98.78%. Eight cases detected with microduplication by BoBs were missed by karyotyping analysis...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29644708/reactive-oxygen-species-impact-on-sperm-dna-and-its-role-in-male-infertility
#15
REVIEW
A D Bui, R Sharma, R Henkel, A Agarwal
Reactive oxygen species (ROS) have been extensively studied as a cause of male infertility. Excessive levels of ROS coupled with a deficiency in antioxidants can lead to oxidative stress (OS), which in turn can lead to nuclear and mitochondrial DNA damage, telomere shortening, epigenetic alterations and Y chromosomal microdeletions. In this review, we discuss how OS induces DNA damage and the types of DNA damage that can occur. We also briefly touch on the clinical consequences of OS-induced DNA damage.
October 2018: Andrologia
https://www.readbyqxmd.com/read/29606904/4q21-2q21-3-duplication-molecular-and-neuropsychological-aspects
#16
REVIEW
Ivan Y Iourov, Maria A Zelenova, Svetlana G Vorsanova, Victoria V Voinova, Yuri B Yurov
During the last decades, a large amount of newly described microduplications and microdeletions associated with intellectual disability (ID) and related neuropsychiatric diseases have been discovered. However, due to natural limitations, a significant part of them has not been the focus of multidisciplinary approaches. Here, we address previously undescribed chromosome 4q21.2q21.3 microduplication for gene prioritization, evaluation of cognitive abilities and estimation of genomic mechanisms for brain dysfunction by molecular cytogenetic (cytogenomic) and gene expression (meta-) analyses as well as for neuropsychological assessment...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29540081/testing-for-genetic-contributions-to-infertility-potential-clinical-impact
#17
Csilla Krausz, Francesca Cioppi, Antoni Riera-Escamilla
Male infertility affects about 7% of the general male population, and it is a multifactorial, polygenic pathological condition. Known genetic factors, accounting for about 20-25% of male factor infertility, are present in each etiological category: i) hypothalamic-pituitary axis dysfunction; ii) quantitative and qualitative alterations of spermatogenesis; iii) ductal obstruction/dysfunction. Areas covered: All routinely available genetic tests are described. Indication for testing for chromosomal anomalies and Y chromosome microdeletions is based on sperm count (severe oligozoospermia/azoospermia)...
April 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29527714/clinical-aspects-of-49-infertile-males-with-45-x-46-xy-mosaicism-karyotype-a-case-series
#18
F Mohammadpour Lashkari, M A Sadighi Gilani, A Ghaheri, M R Zamanian, P Borjian Boroujeni, A Mohseni Meybodi, M Sabbaghian
Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chromosome microdeletion and karyotype, and assisted reproductive technology (ART) outcome were recorded based on patients profile and history...
June 2018: Andrologia
https://www.readbyqxmd.com/read/29525520/role-of-male-genetic-factors-in-recurrent-pregnancy-loss-in-northeast-china
#19
Rulin Dai, Yuan Pan, Yan Fu, Qian Liu, Weifeng Han, Ruizhi Liu
OBJECTIVE: This study aimed to investigate the roles of male genetic factors, including Y chromosome microdeletions and chromosomal heteromorphism, in recurrent pregnancy loss (RPL) in Northeast China. STUDY DESIGN: We evaluated 1072 male patients from Northeast China whose wives had a history of two or more consecutive miscarriages. We also selected 971 infertile and 200 fertile men as control groups. Semen analysis was carried out by computer-assisted sperm analysis...
May 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29466784/clinical-hormonal-and-genetic-evaluation-of-idiopathic-nonobstructive-azoospermia-and-klinefelter-syndrome-patients
#20
Shin Y Kim, Bom Y Lee, Ah R Oh, So Y Park, Hyo S Lee, Ju T Seo
To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower...
2017: Cytogenetic and Genome Research
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