{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T14:59:00Z","timestamp":1779116340133,"version":"3.51.4"},"reference-count":45,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2008,7,14]],"date-time":"2008-07-14T00:00:00Z","timestamp":1215993600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a monochorionic\/diamniotic twin pregnancy discordant for trisomy 21. Amniocentesis (at <jats:styled-content>${\\rm 13}{\\raise0.5ex\\hbox{$\\scriptstyle {\\rm 5}$}\\kern-0.1em\/\\kern-0.15em\\lower0.25ex\\hbox{$\\scriptstyle {\\rm 7}$}}$<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-1.gif\" xlink:title=\"equation image\"\/><\/jats:styled-content> weeks) was performed following ultrasound signs of hydrops and cystic hygroma in twin 1 (T1). Prenatal karyotype showed non\u2010mosaic trisomy 21 in T1 (47,XX,+21[7]), and low\u2010grade mosaic trisomy 21 in twin 2 (T2) (47,XX,+21[2]\/46,XX[19]). Post mortem examination of fetal skin, kidneys and lungs confirmed trisomy 21 in T1 (47,XX,+21[548]) and the placenta (47,XX,+21[200]). T2 had a normal karyotype (46,XX[648]). Analysis of microsatellite polymorphisms in multiple samples from the placenta, hand, lungs, kidneys and the umbilical cords of both twins confirmed monozygosity for all loci tested, and trisomy 21 in T1. Unexpectedly, T1 and T2 inherited different maternal alleles for markers of the most distal 4 Mbp of 21q. At least four successive events are needed to explain the genetic status of both twins and include maternal MI premature chromatids separation or maternal II meiotic nondisjunction and post\u2010zygotic events such as, chromosome rescue, nondisjunction, an\/or recombination. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32431","type":"journal-article","created":{"date-parts":[[2008,7,15]],"date-time":"2008-07-15T00:46:29Z","timestamp":1216082789000},"page":"2086-2093","source":"Crossref","is-referenced-by-count":33,"title":["Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events"],"prefix":"10.1002","volume":"146A","author":[{"given":"Sophie","family":"Dahoun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarantis","family":"Gagos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryline","family":"Gagnebin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Gehrig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Burgi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Simon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Vieux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Extermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Lyle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael A.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9rique","family":"B\u00e9na","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Louis","family":"Blouin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,7,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201839"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/513890"},{"key":"e_1_2_5_4_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_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0293-146"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600609.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.7.534"},{"key":"e_1_2_5_8_1","first-page":"388","article-title":"A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination","volume":"57","author":"Blouin JL","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/338774a0"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1007\/s00439-002-0887-z","article-title":"A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities","volume":"112","author":"Cockwell AE","year":"2003","journal-title":"Hum Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<40::AID-AJMG9>3.0.CO;2-U"},{"key":"e_1_2_5_12_1","first-page":"176","article-title":"Association between nondisjunction and maternal age in meiosis\u2010II human oocytes","volume":"59","author":"Dailey T","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1086"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201619"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0500398102"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/del157"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.08.004"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14237-7"},{"key":"e_1_2_5_19_1","first-page":"699","article-title":"Zygosity testing. 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