{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T21:58:15Z","timestamp":1780696695662,"version":"3.54.1"},"reference-count":27,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,12,27]],"date-time":"2022-12-27T00:00:00Z","timestamp":1672099200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Infertility affects about 15% of couples of childbearing age. About half of these cases can be attributed predominantly to a male factor, such as a quantitative or qualitative impairment in spermatogenesis. The first-line genetic screening for non-obstructive azoospermia is limited to karyotyping (to identify chromosome abnormalities) and Y chromosome microdeletions screening, with a view to explaining the spermatogenetic failure and evaluating the likelihood of sperm retrieval in a testicular biopsy. For patients with de la Chapelle syndrome (a 46,XX karyotype with the presence of SRY (Sex determining region Y) gene) and\/or Y chromosome microdeletions, or sex chromosome mosaicism, sperm retrieval is usually unsuccessful. Here, we report a patient with de la Chapelle syndrome and a short stature caused by mosaicism and a very rare chromosome rearrangement: mos 46,X,psu dic(X;Y)\/45,X\/45,psu dic(X;Y). This case indicates that in de la Chapelle syndrome, X- and Y-chromosome breakpoint variability is high.<\/jats:p>","DOI":"10.3390\/genes14010081","type":"journal-article","created":{"date-parts":[[2022,12,28]],"date-time":"2022-12-28T08:42:22Z","timestamp":1672216942000},"page":"81","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)\/45,X\/45,psu dic(X;Y)(p22.13;q11.221)"],"prefix":"10.3390","volume":"14","author":[{"given":"Arthur","family":"Clement","sequence":"first","affiliation":[{"name":"Cl\u00e9ment Laboratory, F-93110 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Th\u00e9o","family":"Dominot","sequence":"additional","affiliation":[{"name":"Department of Cytogenetics, APHP Centre, Universit\u00e9 de Paris, H\u00f4pital Cochin, F-75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Chammas","sequence":"additional","affiliation":[{"name":"ZTP Laboratory, F-93170 Bobigny, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Montagnon","sequence":"additional","affiliation":[{"name":"Cl\u00e9ment Laboratory, F-93110 Paris, France"},{"name":"Department of Cytogenetics, APHP Centre, Universit\u00e9 de Paris, H\u00f4pital Cochin, F-75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Delcroix","sequence":"additional","affiliation":[{"name":"Department of Genetics, CHI de Poissy St Germain en Laye, F-78300 Poissy, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Pfeffer","sequence":"additional","affiliation":[{"name":"ZTP Laboratory, F-93170 Bobigny, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Dupont","sequence":"additional","affiliation":[{"name":"Department of Cytogenetics, APHP Centre, Universit\u00e9 de Paris, H\u00f4pital Cochin, F-75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziza","family":"Lebbar","sequence":"additional","affiliation":[{"name":"Department of Cytogenetics, APHP Centre, Universit\u00e9 de Paris, H\u00f4pital Cochin, F-75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Clement","sequence":"additional","affiliation":[{"name":"Cl\u00e9ment Laboratory, F-93110 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5774-2756","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Vialard","sequence":"additional","affiliation":[{"name":"Department of Genetics, CHI de Poissy St Germain en Laye, F-78300 Poissy, France"},{"name":"UMR-BREED, INRAE, ENVA, UVSQ, UFR SVS, Montigny le Bretonneux, F-78180 Saint-Quentin, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s12958-015-0032-1","article-title":"A unique view on male infertility around the globe","volume":"13","author":"Agarwal","year":"2015","journal-title":"Reprod. 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