{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T04:36:07Z","timestamp":1789187767673,"version":"build-2803163510"},"reference-count":40,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T00:00:00Z","timestamp":1626739200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Trisomy 13 or Patau syndrome has a prevalence of 1:10,000\u201320,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the first year. Trisomy 13 presents either as a free chromosome 13 trisomy or associated with a chromosomal Robertsonian translocation, as partial trisomy affecting proximal or distal 13q regions, and also as a mosaic. Mosaic trisomy 13\u00a0shows a highly variable phenotype, displaying from mild to severe affectations. We present a 12\u2010year\u2010old Mexican female patient with intellectual disability, dysmorphic features, polymenorrhea, and long survival, whose initial cytogenetic study referred to a small supernumerary marker chromosome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>GTG banding karyotype, high\u2010resolution chromosomal microarray, and fluorescent in situ hybridization analyses were performed in peripheral blood cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our analyses demonstrated a <jats:italic>de novo<\/jats:italic> mosaicism in our patient, constituted by proximal trisomy 13q10\u2010q14.3 (82%) and free trisomy 13 (18%) cell lines. Her final chromosomal complement is mos 47,XX,+del(13)(q14.3)[25]\/47,XX,+13[7].ish del(13)(RB1+)[17]\/13q14(RB1x3)[2].arr[GRCh37] 13q11q14.3(19436286_51726415)x3,13q11q34(19436286_115107733)x2\u20103 dn.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The wide spectrum of clinical manifestations observed in our patient mainly results from the proximal trisomy 13q, and her phenotype is modified by the presence of a free trisomy 13 cell line. We propose that her mosaicism probably derived from a trisomic zygote that underwent a failed trisomic rescue associated with chromothripsis, originating the cell line with partial 13q proximal trisomy, whose selective advantage could explain the long survival of our patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1762","type":"journal-article","created":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T17:31:36Z","timestamp":1626802296000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3768-9687","authenticated-orcid":false,"given":"Ver\u00f3nica Fabiola","family":"Mor\u00e1n\u2010Barroso","sequence":"first","affiliation":[{"name":"Servicio de Gen\u00e9tica 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