{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:42:00Z","timestamp":1764171720512},"reference-count":20,"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:p>We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in association with maternal uniparental disomy (UPD) 22, molecular studies were also performed. Microsatellite marker studies showed biparental inheritance. Follow\u2010up studies after delivery showed a normal cell line in lymphocytes with the trisomy appearing to be confined to the placenta. The present case concurs with other earlier reports that maternal UPD for chromosome 22 has no impact on the phenotype. The features seen in the fetus are most likely the result of placental dysfunction due to trisomy, tissue\u2010specific mosaicism and\/or the effects of local growth restriction. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.260","type":"journal-article","created":{"date-parts":[[2002,9,11]],"date-time":"2002-09-11T01:59:00Z","timestamp":1031709540000},"page":"137-140","source":"Crossref","is-referenced-by-count":15,"title":["A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus"],"prefix":"10.1002","volume":"22","author":[{"given":"Jennifer","family":"Bryan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Peters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary","family":"Pritchard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sue","family":"Healey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Payton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,2,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199911)19:11<1061::AID-PD687>3.0.CO;2-Q"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199804)18:4<384::AID-PD263>3.0.CO;2-4"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199705)17:5<443::AID-PD82>3.0.CO;2-2"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199703)17:3<201::AID-PD56>3.0.CO;2-H"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970141305"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.7.529"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340417"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.suppl_1.1757"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199807)18:7<659::AID-PD317>3.0.CO;2-K"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00173.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03084.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-59259-643-0_12"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K"},{"key":"e_1_2_1_15_1","first-page":"917","article-title":"Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction","volume":"60","author":"Robinson WP","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","first-page":"21","article-title":"Maternal uniparental disomy 22 has no impact on the phenotype","volume":"54","author":"Schinzel AA","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<366::AID-AJMG7>3.0.CO;2-H"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00062-9"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-59259-643-0_16"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199606)16:6<511::AID-PD904>3.0.CO;2-8"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82547-8"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.260","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.260","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T11:53:40Z","timestamp":1700308420000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.260"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,2]]}},"alternative-id":["10.1002\/pd.260"],"URL":"https:\/\/doi.org\/10.1002\/pd.260","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]]}}}