{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:59:06Z","timestamp":1792205946109,"version":"4.4.0"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,2,14]],"date-time":"2002-02-14T00:00:00Z","timestamp":1013644800000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2002,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Mosaicism involving a 45,X cell line is relatively common in prenatal diagnosis. In prenatally diagnosed cases, the prognosis of non\u2010mosaic 45,X and 45,X\/46,XY mosaicism are different. Therefore, accurate identification of a cell line containing Y chromosome is critical for genetic counseling and postnatal management.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated the ultrasound findings and outcomes of pregnancies with a 45,X cell line identified during mid\u2010trimester cytogenetic analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 105 cases were found to have a 45,X cell line by standard cytogenetic analysis. Seventy\u2010four cases were found to have non\u2010mosaic 45,X at initial diagnosis. Of these 74 cases, 68 had abnormal ultrasound findings that were characteristic of Turner syndrome. Of the six cases with normal ultrasound findings, ultrasound examination was normal with male genitalia identified in three cases. Thorough cytogenetic and fluorescent <jats:italic>in situ<\/jats:italic> hybridization (FISH) analysis identified Y chromosome material in all three cases, one with a dicentric Y;14 chromosome and the other two cases with a marker chromosome containing Sex\u2012determining Region (SRY) material in a small portion of the cells. In contrast, in 31 cases with a mosaic 45,X karyotype, ultrasound abnormality was identified only in one case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The present data suggest the need for follow\u2010up ultrasound examination and thorough cytogenetic and molecular analysis for Y chromosome material in 45,X cases with normal ultrasound findings. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.242","type":"journal-article","created":{"date-parts":[[2002,9,11]],"date-time":"2002-09-11T01:59:00Z","timestamp":1031709540000},"page":"105-110","source":"Crossref","is-referenced-by-count":42,"title":["Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations"],"prefix":"10.1002","volume":"22","author":[{"given":"Bing","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Thangavelu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sucheta","family":"Bhatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constance","family":"J. Sandlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengbiao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,2,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.12.3532"},{"key":"e_1_2_1_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_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00280488"},{"key":"e_1_2_1_5_1","first-page":"477","article-title":"A 45,X male with Y\u2010specific DNA translocated onto chromosome 15","volume":"40","author":"Gal A","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.312.7022.16"},{"key":"e_1_2_1_7_1","first-page":"63","volume-title":"Population Cytogenetics: Studies in Humans","author":"Hook EB","year":"1977"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090106"},{"key":"e_1_2_1_9_1","first-page":"179","volume-title":"Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment","author":"Hsu LYF","year":"1998"},{"key":"e_1_2_1_10_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_1_11_1","first-page":"249","volume-title":"Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment","author":"Robinson A","year":"1998"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970100509"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283372"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.242","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.242","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T11:52:58Z","timestamp":1700308378000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.242"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,2]]}},"alternative-id":["10.1002\/pd.242"],"URL":"https:\/\/doi.org\/10.1002\/pd.242","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,2]]}}}