{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T13:02:13Z","timestamp":1776258133899,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,11,20]],"date-time":"2018-11-20T00:00:00Z","timestamp":1542672000000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National science and technology support program","award":["2014BAI06B00"],"award-info":[{"award-number":["2014BAI06B00"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A 30\u2010year\u2010old oligoasthenozoospermia man was found to have unbalance mosaic translocation between chromosome 22 and four other chromosomes (5, 6, 13, and 15) during the investigations for a couple with infertility for 3\u00a0years, which is a rare event in human pathology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Classical cytogenetics analysis, fluorescence in situ hybridization (FISH), and chromosome microarray analyses (CMA) were performed on peripheral blood lymphocytes; copy number variation sequencing (CNV\u2010Seq) analysis was performed on sperm <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Classical cytogenetics analysis showed the presence of six cell lines on peripheral blood lymphocytes: 45, <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>, der (13) t(13;22),\u201022[10]\/46, <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>, t(13;22)[6]\/45, <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>, der(15)t(15;22),\u201022[4]\/46, <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>, t(13;22)[1]\/45, <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>, der(5)t(5;22),\u201022[1]\/45, <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>, der(6)t(6;22)[1]. <jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> performed on peripheral blood cells showed the presence of a 6.9\u00a0Mb mosaic 22q11 deletion (approximately 50% of cells); it is unexpected that the phenotypes of this man were merely oligoasthenozoospermia, mild bradycardia, and mild tricuspid regurgitation. <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>\u2010Seq analysis performed on sperm <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> revealed the rate of 22q11 deletion cells was obviously lower compared with peripheral blood cells. And the frequency of gametes exhibiting a normal or balance chromosomal equipment was above 80% in sperm samples.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To the best of our knowledge, this report is the first case of a de novo gonosomal mosaic of chromosome 22q11 deletion just associated with male infertility.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.487","type":"journal-article","created":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T07:57:20Z","timestamp":1542787040000},"page":"1249-1254","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Infertility in a man with oligoasthenozoospermia associated with mosaic chromosome 22q11 deletion"],"prefix":"10.1002","volume":"6","author":[{"given":"Yanyan","family":"Liu","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, Department of Obstetrics &amp; Gynecologic Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education West China Second University Hospital, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongmei","family":"Zhu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Department of Obstetrics &amp; 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