{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T05:53:02Z","timestamp":1747201982451,"version":"3.40.5"},"reference-count":46,"publisher":"Federacion Colombiana de Obstetricia y Ginecologia","issue":"1","license":[{"start":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T00:00:00Z","timestamp":1585180800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev. Colomb. Obstet. Ginecol."],"abstract":"<jats:p>Objetivos: reportar el caso de una paciente con s\u00edndrome de Turner en mosaico, a quien se le realiz\u00f3 un tratamiento de reproducci\u00f3n asistida con an\u00e1lisis gen\u00e9tico preimplantatorio para aneuploidias, logrando el nacimiento de una ni\u00f1a sana con cariotipo normal, y realizar una revisi\u00f3n de la literatura sobre la utilidad del diagn\u00f3stico gen\u00e9tico preimplantatorio en las mujeres con s\u00edndrome de Turner. Materiales y m\u00e9todos: se presenta el caso de una mujer de 27 a\u00f1os, con diagn\u00f3stico de s\u00edndrome de Turner en mosaico y con alteraci\u00f3n secundaria en la reserva ov\u00e1rica, atendida en centro de referencia para el manejo de infertilidad en Medell\u00edn, Colombia, a quien se le realiz\u00f3 un tratamiento de fertilizaci\u00f3n in vitro con an\u00e1lisis gen\u00e9tico preimplantatorio para prevenir la transmisi\u00f3n del s\u00edndrome de Turner a su descendencia. Se realiz\u00f3 una b\u00fasqueda de la literatura en las bases de datos Medline v\u00eda PubMed, Clinical Key, OVID, Embase, Lilacs, SciELO y Oxford Journals, con los siguientes t\u00e9rminos: \u201cTurner Syndrome\u201d, \u201cMosaic Turner\u201d, \u201cPreimplantation Genetic Screening\u201d, \u201cPreimplantation Genetic Testing\u201d, \u201cPreimplantation Genetic Diagnosis\u201d, \u201cPregnancy\u201d, \u201cSuccessful pregnancy\u201d. Como criterios de inclusi\u00f3n se consideraron art\u00edculos tipo series y reportes de casos, cohortes y art\u00edculos de revisi\u00f3n desde enero de 1980 hasta junio de 2017, que incluyeran mujeres con s\u00edndrome de Turner embarazadas por medio de t\u00e9cnicas de fertilizaci\u00f3n in vitro, con sus propios \u00f3vulos, y que hubiesen sido sometidas a biopsia embrionaria para diagn\u00f3stico gen\u00e9tico preimplantatorio. La b\u00fasqueda se limit\u00f3 a los idiomas espa\u00f1ol e ingl\u00e9s. Resultados: un estudio cumpli\u00f3 con los criterios de inclusi\u00f3n. Tanto en este reporte como en nuestro caso, las pacientes con s\u00edndrome de Turner en mosaico se sometieron a varios ciclos de inyecci\u00f3n intracitoplasm\u00e1tica de espermatozoides (ICSI) con sus propios \u00f3vulos, luego se realiz\u00f3 biopsia embrionaria para an\u00e1lisis gen\u00e9tico preimplantatorio utilizando diferentes t\u00e9cnicas. En ambos casos se logr\u00f3 la transferencia al \u00fatero de embriones euploides con el posterior nacimiento de ni\u00f1as sanas con cariotipo normal. Conclusi\u00f3n: Las pacientes con ST mosaico podr\u00edan beneficiarse de la biopsia embrionaria y an\u00e1lisis gen\u00e9tico preimplantatorio para prevenir la transmisi\u00f3n del defecto gen\u00e9tico a su descendencia.<\/jats:p>","DOI":"10.18597\/rcog.3331","type":"journal-article","created":{"date-parts":[[2020,4,7]],"date-time":"2020-04-07T15:49:54Z","timestamp":1586274594000},"source":"Crossref","is-referenced-by-count":1,"title":["Reci\u00e9n nacido sano despu\u00e9s de diagn\u00f3stico gen\u00e9tico preimplantatorio en una madre con s\u00edndrome de Turner mosaico. Reporte de caso y revisi\u00f3n de la literatura"],"prefix":"10.18597","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9866-9420","authenticated-orcid":false,"given":"Walter","family":"Osorio-Ram\u00edrez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9246-7446","authenticated-orcid":false,"given":"Juan Luis","family":"Giraldo-Moreno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5940-7679","authenticated-orcid":false,"given":"Diana Patricia","family":"G\u00f3mez-Cort\u00e9s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4392-6909","authenticated-orcid":false,"given":"David","family":"Olive","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1331-1444","authenticated-orcid":false,"given":"John Fidel","family":"Cano-Franco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3090-568X","authenticated-orcid":false,"given":"Sergio","family":"Tamayo-Hussein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7913","published-online":{"date-parts":[[2020,3,26]]},"reference":[{"issue":"1","key":"ref0","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1210\/jc.2006-1374","article-title":"Care of girls and women with Turner Syndrome: A guideline of the Turner syndrome study group","volume":"92","author":"Bondy","year":"2007","unstructured":"Bondy CA. 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