FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male
Author:
Funder
NIH
Ministry of Science and Higher Education, Poland
National Science Centre, Poland
Publisher
Elsevier BV
Subject
Developmental Biology,Reproductive Medicine,Obstetrics and Gynaecology
Reference61 articles.
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2. AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12;Babcock;Genome Res,2007
3. A short history of the initial discovery of the SHOX gene;Bernasconi;J. Endocrinol. Invest,2010
4. Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (y;22) translocation: case report;Brisset;Hum. Reprod,2005
5. Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2);Bukvic;Gene,2013
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Genomic testing for copy number and single nucleotide variants in spermatogenic failure;Journal of Assisted Reproduction and Genetics;2022-07-18
2. A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development;Clinical Case Reports;2018-07-07
3. Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects;Journal of Applied Genetics;2017-10-06
4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017
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