{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:14:50Z","timestamp":1787022890123,"version":"build-2736575974"},"reference-count":23,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,8,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives.<\/jats:title>\n                    <jats:p>There exist substantial differences between prenatally and postnatally diagnosed cases of 45,X\/46,XY mosaicism. Ninety percent of prenatally diagnosed cases show a normal male phenotype, whereas the postnatally diagnosed cases show a wide spectrum of phenotypes. This 10% risk of an abnormal outcome in prenatally diagnosed cases requires further attention. The purpose of the present study is to provide more information on the postnatally diagnosed 45,X\/46,XY mosaicism cases. To date, only a few series have been reported. An accurate diagnosis in these patients is essential not only to their follow-up, but also to providing appropriate genetic counselling and subsequent prenatal diagnosis to their parents.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods.<\/jats:title>\n                    <jats:p>The clinical, cytogenetic, endocrinologic, histologic and molecular biological findings of 27 patients with 45,X\/46,XY mosaicism are analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results.<\/jats:title>\n                    <jats:p>The reported cases showed a wide spectrum of phenotypes as Turner syndrome, mixed gonadal dysgenesis (MGD), male pseudohermaphroditism (MPH) and apparently normal male. However, Ulrich-Turner stigmata were the most common features found in this series. Patients with MGD or MPH presented with various degrees of sex reversal such as hypospadias and\/or abnormal internal genitalia. No correlation between the proportion of the 45,X\/46,XY cell lines in the blood or the fibroblasts and the phenotype was found. Mild mental retardation was present in 4 of the patients and 2 patients showed signs of autism.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions.<\/jats:title>\n                    <jats:p>Two major points are emphasized in this series: 1) the presence in 7 histologically analyzed streak gonads of a homogeneous 45,X chromosomal complement suggests that the invasion of the primitive genital ridge by a such a cell line may induce abnormal gonadal development; 2) 3 males, apparently normal at birth, developed late onset abnormalities such as dysgenetic testes leading to infertility, Ulrich-Turner stigmata, dysmorphic features, and mild mental retardation. These data indicate the importance of an accurate clinical and histologic evaluation of any patient presenting with 45,X\/46,XY mosaicism.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1542\/peds.104.2.304","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T19:45:45Z","timestamp":1092426345000},"page":"304-308","source":"Crossref","is-referenced-by-count":164,"title":["45,X\/46,XY Mosaicism: Report of 27 Cases"],"prefix":"10.1542","volume":"104","author":[{"given":"Louise","family":"Telvi","sequence":"first","affiliation":[{"name":"Service d'Histologie-Embryologie-Cytoge\u0301ne\u0301tique et d'Anatomie Pathologique"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziza","family":"Lebbar","sequence":"additional","affiliation":[{"name":"Service d'Histologie-Embryologie-Cytoge\u0301ne\u0301tique et d'Anatomie Pathologique"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Del Pino","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie Pe\u0301diatrique"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques Patrick","family":"Barbet","sequence":"additional","affiliation":[{"name":"Service d'Histologie-Embryologie-Cytoge\u0301ne\u0301tique et d'Anatomie Pathologique"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Louis","family":"Chaussain","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie Pe\u0301diatrique"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[1999,8,1]]},"reference":[{"key":"2021121002572008500_B1","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1007\/BF00716471","article-title":"45,X\/46,XY mosaicism. A clinical review and report of ten cases.","volume":"146","author":"Knudtzon","year":"1987","journal-title":"Eur J Pediatr."},{"key":"2021121002572008500_B2","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/ajmg.1320270308","article-title":"Phenotypic spectrum of 45,X\/46,XY individuals.","volume":"27","author":"Rosenberg","year":"1987","journal-title":"Am J Med Genet."},{"key":"2021121002572008500_B3","first-page":"289","article-title":"Abnormalities of gonadal determination and differentiation.","volume":"16","author":"Berkowitz","year":"1992","journal-title":"Semin Perinatol."},{"key":"2021121002572008500_B4","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/ajmg.1320460304","article-title":"Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological and histopathological findings in 16 patients.","volume":"46","author":"Mendez","year":"1993","journal-title":"Am J Med Genet."},{"key":"2021121002572008500_B5","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/S0046-8177(82)80292-X","article-title":"Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis.","volume":"13","author":"Robboy","year":"1982","journal-title":"Hum Pathol."},{"key":"2021121002572008500_B6","first-page":"93","article-title":"A case of true hermaphroditism with 45,X\/46,XY mosaicism.","volume":"324","author":"Gerli","year":"1976","journal-title":"Hum Genet."},{"key":"2021121002572008500_B7","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/pd.1970090106","article-title":"Prenatal diagnosis of 45,X\/46,XY mosaicism. A review and uptake.","volume":"9","author":"Hsu","year":"1989","journal-title":"Prenat Diagn."},{"key":"2021121002572008500_B8","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/ajmg.1320530204","article-title":"Phenotype\/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases.","volume":"53","author":"Hsu","year":"1994","journal-title":"Am J Med Genet."},{"key":"2021121002572008500_B9","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1002\/ajmg.1320320417","article-title":"Chromosome mosaicism in 6000 amniocenteses.","volume":"32","author":"Wilson","year":"1989","journal-title":"Am J Med Genet."},{"key":"2021121002572008500_B10","first-page":"156","article-title":"The phenotype of 45,X\/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.","volume":"46","author":"Chang","year":"1990","journal-title":"Am J Hum Genet."},{"key":"2021121002572008500_B11","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1542\/peds.52.5.725","article-title":"Mixed gonadal dysgenesis.","volume":"52","author":"Davidoff","year":"1973","journal-title":"Pediatrics."},{"key":"2021121002572008500_B12","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1002\/ajmg.1320570416","article-title":"Gonadal dysgenesis in del(18p) syndrome.","volume":"57","author":"Telvi","year":"1995","journal-title":"Am J Med Genet."},{"key":"2021121002572008500_B13","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/BF00282002","article-title":"Identification of human chromosomes by DNA-binding fluorescent agents.","volume":"30","author":"Caspersson","year":"1970","journal-title":"Chromosoma."},{"key":"2021121002572008500_B14"},{"key":"2021121002572008500_B15","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1016\/S0929-693X(97)85938-6","article-title":"Association d'une dysge\u0301ne\u0301sie gonadique mixte et d'une forme non classique de bloc de la 21 hydroxylase: a propos d'un cas.","volume":"3","author":"Del Pino","year":"1996","journal-title":"Arch Fr Pediatr."},{"key":"2021121002572008500_B16","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/ajmg.1320420414","article-title":"Molecular study of 45,X conceptuses: correlation with clinical findings.","volume":"42","author":"Lorda-Sanchez","year":"1992","journal-title":"Am J Med Genet."},{"key":"2021121002572008500_B17","first-page":"444","article-title":"Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.","volume":"56","author":"Robinson","year":"1995","journal-title":"Am J Hum Genet."},{"key":"2021121002572008500_B18","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/j.1399-0004.1994.tb04167.x","article-title":"Mixed Gonadal Dysgenesis and cell line differentiation. Case presentation and literature review.","volume":"46","author":"Sugarman","year":"1994","journal-title":"Clin Genet."},{"key":"2021121002572008500_B19","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1111\/j.1399-0004.1991.tb03084.x","article-title":"Cell line segregations in 45,X\/46,XY mosaic child with asymmetric leg growth.","volume":"40","author":"Papenhausen","year":"1991","journal-title":"Clin Genet."},{"key":"2021121002572008500_B20","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1136\/jmg.32.7.578","article-title":"Detection of Y mosaicism in patients with Turner syndrome.","volume":"32","author":"Chu","year":"1995","journal-title":"J Med Genet."},{"key":"2021121002572008500_B21"},{"key":"2021121002572008500_B22","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1136\/jmg.26.5.330","article-title":"Y chromosome specific probes identify breakpoint in a 45,X\/46,X,del(Y)(pter\u2192q11.1) karyotype of an infertile male.","volume":"26","author":"Beverstock","year":"1989","journal-title":"J Med Genet."},{"key":"2021121002572008500_B23","first-page":"337","article-title":"Mosa\u0131\u0308que 45,X\/47,X,dic(Yq),dic(Yq) chez un homme ste\u0301rile de phe\u0301notype normal.","volume":"11","author":"Teyssier","year":"1982","journal-title":"J Gynecol Obstet Biol Reprod (Paris)."}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/104\/2\/304\/843726\/304.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/104\/2\/304\/843726\/304.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,14]],"date-time":"2024-01-14T00:06:07Z","timestamp":1705190767000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/104\/2\/304\/62423\/45-X-46-XY-Mosaicism-Report-of-27-Cases"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,8,1]]},"references-count":23,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1999,8,1]]},"published-print":{"date-parts":[[1999,8,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.104.2.304","relation":{},"ISSN":["1098-4275","0031-4005"],"issn-type":[{"value":"1098-4275","type":"electronic"},{"value":"0031-4005","type":"print"}],"subject":[],"published":{"date-parts":[[1999,8,1]]}}}