{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:37:44Z","timestamp":1778643464591,"version":"3.51.4"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,5,1]],"date-time":"2002-05-01T00:00:00Z","timestamp":1020211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report cytogenetic and molecular findings performed in a patient with double mosaic aneuploidy. Chromosome analysis of amniotic fluid cells from a 17\u2010week\u2010old fetus was performed because of advanced maternal age. Two karyotypes were detected: 45,X and 47,XX,+18 (50:50%). The same cell lines were determined in uncultured and cultured amniocytes of a second amniotic fluid sample, in fetal lymphocytes, and in uncultured and cultured cells of achilles tendon by conventional cytogenetics and fluorescence in situ hybridization (FISH). In the different investigated tissues, the percentage of cells with 45,X karyotype ranged from 20\u201399% and the percentage of cells with 47,XX,+18 ranged from 1\u201380%. The pregnancy was terminated at 22\u2009+\u20090 weeks because of a severe cardiac malformation. Pathologic examination showed a fetus with aspects typical for manifestation of trisomy 18 and monosomy X, especially in the internal organs. The parent and cell stage of origin was determined by short tandem repeat typing and revealed a maternal meiotic division error that led to trisomy 18, as well as a somatic loss of a paternal sex chromosome. Only two other patients with the same mosaicism have been reported so far. Genetic counseling and prognosis remains challenging. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10442","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:29:56Z","timestamp":1033907396000},"page":"278-282","source":"Crossref","is-referenced-by-count":18,"title":["Clinical, cytogenetic, and molecular findings in 45,X\/47,XX,+18 mosaicism: Clinical report and review of the literature"],"prefix":"10.1002","volume":"110","author":[{"given":"Regine","family":"Schubert","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia","family":"Hofstaetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"von Netzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gisela","family":"Kn\u00f6pfle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gesa","family":"Schwanitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,5,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199103283241302"},{"key":"e_1_2_6_3_1","first-page":"544","article-title":"The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms","volume":"50","author":"Antonarakis SE","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200009)20:9<750::AID-PD900>3.0.CO;2-E"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02265269"},{"key":"e_1_2_6_6_1","first-page":"669","article-title":"Trisomy 18: studies of parent and cell division of origin and the effect of aberrant recombination on nondisjunction","volume":"56","author":"Fisher JM","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960301)62:1<26::AID-AJMG6>3.0.CO;2-U"},{"key":"e_1_2_6_8_1","first-page":"496","article-title":"45,X\/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines","volume":"36","author":"Genuardi M","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03626.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<432::AID-AJMG17>3.0.CO;2-P"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(86)90194-0"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_6_13_1","first-page":"235","article-title":"Trisomy 18 mosaicism in a midly retarded boy with postnatal overgrowth","volume":"40","author":"Plessis G","year":"1997","journal-title":"Ann Genet"},{"key":"e_1_2_6_14_1","first-page":"444","article-title":"Molecular studies of chromosomal mosaicism: frequency of chromosome gain or loss and possible role of cell selection","volume":"56","author":"Robinson WP","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.1.101"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00446288"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(93)90230-F"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10442","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10442","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T21:41:54Z","timestamp":1697492514000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10442"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5,30]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,7]]}},"alternative-id":["10.1002\/ajmg.10442"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10442","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5,30]]}}}