{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:55:41Z","timestamp":1787169341546,"version":"build-2736575974"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,12,14]],"date-time":"2005-12-14T00:00:00Z","timestamp":1134518400000},"content-version":"vor","delay-in-days":3849,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1995,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report a growth\u2010retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non\u2010mosaic trisomy 16 was detected at mid\u2010trimester chorionic villus sampling, performed because biochemical screening indicated an increased Down's syndrome risk. Further karyotyping analysis of the placenta, after delivery, showed a 50 per cent mosaic trisomy 16. The infant had an atrioventricular (A\u2010V) canal defect, scoliosis, and several minor dysmorphic features. Although uniparental disomy for chromosome 16 has been reported previously, to our knowledge this is the first case of uniparental isodisomy for chromosome 16 which has been investigated with multiple DNA probes.<\/jats:p>","DOI":"10.1002\/pd.1970150613","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T06:18:31Z","timestamp":1172989111000},"page":"579-584","source":"Crossref","is-referenced-by-count":27,"title":["Uniparental isodisomy for chromosome 16 in a growth\u2010retarded infant with congenital heart disease"],"prefix":"10.1002","volume":"15","author":[{"given":"M. L.","family":"Whiteford","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Coutts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Al\u2010Roomi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Mather","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Lowther","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Cooke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. I.","family":"Vaughan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. E.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L.","family":"Tolmie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,12,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92980-T"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970080206"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470231"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92981-K"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140405"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694supp-246"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286525"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000472384"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272385"},{"key":"e_1_2_1_12_1","first-page":"8","article-title":"Uniparental disomy for chromosome 16 in humans","volume":"52","author":"Kalousek D. 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Chromosome Newsl."},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/342281a0"},{"key":"e_1_2_1_20_1","first-page":"2078","article-title":"Ten microsatellite polymorphisms mapped to chromosome 16","volume":"3","author":"Phillips H. A.","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970141007"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970121205"},{"key":"e_1_2_1_23_1","first-page":"217","article-title":"Uniparental disomy as a mechanism for human genetic disease","volume":"42","author":"Spence J. E.","year":"1988","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_24_1","article-title":"Maternal isodisomy 16 in a normal 46, XX following trisomic conception","volume":"53","author":"Sutcliffe M. J.","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.1.123"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140817"},{"key":"e_1_2_1_27_1","unstructured":"Vidaud D. Vidaud M. Plassa F. Gazengel C. Noel B. Goossens M.(1989). Father\u2010to\u2010son transmission of hemophilia A due to uniparental disomy 40thAnn. Meet. Am. Soc. Hum. Genet. Abstract 889."},{"key":"e_1_2_1_28_1","first-page":"373","article-title":"Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?","volume":"45","author":"Voss R.","year":"1989","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_29_1","first-page":"A99","article-title":"Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial 13\/14 Robertsonian translocation carrier","volume":"47","author":"Wang J. C.","year":"1990","journal-title":"Am. J. Hum. 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