{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T14:56:58Z","timestamp":1769525818895,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,7,25]],"date-time":"2003-07-25T00:00:00Z","timestamp":1059091200000},"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":[[2004,1,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Uniparental disomy for a number of human chromosomes is associated with clinical abnormalities. We report a child with a complex chromosomal rearrangement involving chromosome 20 (45,XY,psu dic (20;20)(p13;p13)) and paternal uniparental isodisomy for chromosome 20 in peripheral blood and bone marrow. This patient had multiple congenital abnormalities including microtia\/anotia, micrencephaly, congenital heart disease, neuronal subependymal heterotopias, and colonic agangliosis. Molecular studies on DNA from peripheral blood demonstrated paternal uniparental inheritance of chromosome 20. However, fibroblasts demonstrated a mosaic karyotype, with one cell line having 45 chromosomes, including the pseudodicentric chromosome 20 (75% of cells), and a second cell line having 46 chromosomes, including the pseudodicentric chromosome 20, and a normal chromosome 20 (trisomy 20) (25% of cells). FISH experiments using a sub\u2010telomeric probe that maps \u223c120 kb from the 20p telomere, showed that both copies of these sequences were present on the rearranged chromosome, consistent with deletion of a very small interval. This leads us to suggest that in addition to trisomy 20 mosaicism, paternal uniparental disomy for chromosome 20 could contribute to his clinical phenotype. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20430","type":"journal-article","created":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T09:00:27Z","timestamp":1072947627000},"page":"274-279","source":"Crossref","is-referenced-by-count":31,"title":["Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies"],"prefix":"10.1002","volume":"124A","author":[{"given":"Charles P.","family":"Venditti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piper","family":"Hunt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Donnenfeld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy B.","family":"Spinner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,7,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/320117"},{"key":"e_1_2_7_3_1","first-page":"100","article-title":"Genetic and physical imprinting map of the mouse","volume":"95","author":"Beechey CV","year":"1997","journal-title":"Mouse Genome"},{"key":"e_1_2_7_4_1","first-page":"137","article-title":"Parental origin effects in mice","volume":"97","author":"Cattanach BM","year":"1986","journal-title":"J Embryol Exp Morphol"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/315496a0"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200287"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.2.86"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2001.6612"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970070809"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110103"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.20.11798"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.6022"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8681"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.583"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<80::AID-AJMG15>3.0.CO;2-T"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.suppl_1.1757"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-243"},{"key":"e_1_2_7_18_1","first-page":"A227","article-title":"Angelman syndrome can result from paternal uniparental disomy","volume":"47","author":"Malcolm S","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<298::AID-AJMG10>3.0.CO;2-F"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.10.1599"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/342281a0"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-235"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01595.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.7.3830"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1217"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<72::AID-AJMG15>3.0.CO;2-L"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.10.626"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.158"},{"key":"e_1_2_7_29_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_7_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200105000-00011"},{"key":"e_1_2_7_31_1","first-page":"217","article-title":"Uniparental disomy as a mechanism for human genetic disease","volume":"42","author":"Spence JE","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200002)20:2<103::AID-PD761>3.0.CO;2-K"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580207.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20430","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20430","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T16:28:57Z","timestamp":1697041737000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20430"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7,25]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,1,30]]}},"alternative-id":["10.1002\/ajmg.a.20430"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20430","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7,25]]}}}