{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:02:05Z","timestamp":1787162525747,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Medical Genetics Postdoctoral Fellowship","award":["5T32 GM007454"],"award-info":[{"award-number":["5T32 GM007454"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>High quality information is critical for informed decision\u2010making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X\/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty\u2010five patients with prenatally diagnosed 45,X\/46,XX mosaicism were collected by retrospective chart review and, when possible, semi\u2010structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X\/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X\/46,XX mosaicism. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37551","type":"journal-article","created":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T18:18:54Z","timestamp":1453313934000},"page":"1196-1201","source":"Crossref","is-referenced-by-count":20,"title":["Postnatal outcomes of prenatally diagnosed 45,X\/46,XX"],"prefix":"10.1002","volume":"170","author":[{"given":"Mari J.","family":"Tokita","sequence":"first","affiliation":[{"name":"Division of Medical Genetics University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia P.","family":"Sybert","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics University of Washington Seattle Washington"},{"name":"Pediatric Dermatology Group Health Cooperative Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,1,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610107.x"},{"key":"e_1_2_6_3_1","first-page":"156","article-title":"The phenotype of 45,X\/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases","volume":"46","author":"Chang HJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470893159.ch56"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02807.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4439"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2003-1122-L"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-09-0750"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090106"},{"key":"e_1_2_6_10_1","first-page":"634","article-title":"Prenatal diagnosis of 45,X\/46,XX","volume":"58","author":"Hsu LY.","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_11_1","first-page":"661","article-title":"Prenatal diagnosis of 45,X\/46,XX mosaicism and 45,X: Implications for postnatal outcome","volume":"57","author":"Koeberl DD","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000128171.14081.eb"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.6.1810"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.5402\/2011\/807106"},{"key":"e_1_2_6_15_1","first-page":"635","article-title":"Reply to Hsu","volume":"58","author":"Sybert VP","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra030360"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37551","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37551","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T08:15:15Z","timestamp":1696580115000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37551"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,20]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1002\/ajmg.a.37551"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37551","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,20]]}}}