{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:52:17Z","timestamp":1777395137636,"version":"3.51.4"},"reference-count":11,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,7,1]]},"abstract":"\n Objective.<\/jats:title>\n Tetralogy of Fallot is a common cardiac anomaly that is associated with chromosome 22q11 microdeletion. In this study we examined the mode of transmission as well as the parental origin of microdeletion in patients with tetralogy of Fallot.<\/jats:p>\n <\/jats:sec>\n \n Methods.<\/jats:title>\n Eighty-four children with sporadic tetralogy of Fallot (40 boys and 44 girls; mean age, 34 months) were analyzed for microdeletion at chromosome 22q11 by genotype analysis, using five microsatellite markers, D22S427, D22S941, D22S944, D22S264 and D22S311, and confirmed by quantitative polymerase chain reaction, using TUPLE1 and D22S264. All parents of these subjects consented to their own participation and their child's participation in the clinical evaluation and molecular study. To provide a molecular characterization of microdeletion, we isolated DNA from the parents and typed their DNA with each of the five polymorphic markers.<\/jats:p>\n <\/jats:sec>\n \n Results.<\/jats:title>\n Sixty-six patients were associated with pulmonary stenosis; and 8 of these cases (12%) had microdeletion. Eighteen patients were associated with pulmonary atresia, and 6 (33%) of these cases had microdeletion. The parental origins of the 14 patients with microdeletion were paternal in 3 cases and maternal in 11 cases. The most common mode of transmission was de novo without parental hemizygosity (93%). Transmission by autosomal dominant heredity was uncommon (7%).<\/jats:p>\n <\/jats:sec>\n \n Conclusions.<\/jats:title>\n Biased parental origin was consistently found in tetralogy of Fallot patients with chromosomal 22q11 microdeletion. Our results indicated a higher prevalence of microdeletion because of inheritance of maternal microdeletion (78%).<\/jats:p>\n <\/jats:sec>","DOI":"10.1542\/peds.104.1.87","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:45:45Z","timestamp":1092440745000},"page":"87-90","source":"Crossref","is-referenced-by-count":21,"title":["Prevalence and Parental Origin in Tetralogy of Fallot Associated With Chromosome 22q11 Microdeletion"],"prefix":"10.1542","volume":"104","author":[{"given":"Jen-Her","family":"Lu","sequence":"first","affiliation":[{"name":"From the Departments of Pediatrics and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-Yi","family":"Chung","sequence":"additional","affiliation":[{"name":"Pathology and Laboratory Medicine, Veterans General Hospital-Taipei, National Yang-Ming University, Taipei, Taiwan, Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Betau","family":"Hwang","sequence":"additional","affiliation":[{"name":"From the Departments of Pediatrics and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsieh-Ping","family":"Chien","sequence":"additional","affiliation":[{"name":"From the Departments of Pediatrics and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[1999,7,1]]},"reference":[{"key":"2021121002594428200_B1","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/jmg.30.10.852","article-title":"DiGeorge syndrome: part of CATCH22.","volume":"30","author":"Wilson","year":"1993","journal-title":"J Med Genet."},{"key":"2021121002594428200_B2","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/S0002-9149(99)80170-2","article-title":"Tetralogy of Fallot associated with chromosome 22q11 deletion.","volume":"76","author":"Momma","year":"1995","journal-title":"Am J Cardiol."},{"key":"2021121002594428200_B3","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1007\/BF02265254","article-title":"Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.","volume":"97","author":"Debrus","year":"1996","journal-title":"Hum Genet."},{"key":"2021121002594428200_B4","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1007\/BF00223856","article-title":"22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.","volume":"95","author":"Amati","year":"1995","journal-title":"Hum Genet."},{"key":"2021121002594428200_B5","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/0140-6736(92)92107-Q","article-title":"Deletions within chromosome 22q11 in familial congenital heart disease.","volume":"340","author":"Wilson","year":"1995","journal-title":"Lancet."},{"key":"2021121002594428200_B6","first-page":"1391","article-title":"Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.","volume":"56","author":"Morrow","year":"1995","journal-title":"Am J Hum Genet."},{"key":"2021121002594428200_B7","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<317::AID-AJMG13>3.0.CO;2-X","article-title":"What's in a name? Chromosome 22q11 abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes.","volume":"65","author":"Wulfsberg","year":"1996","journal-title":"Am J Med Genet."},{"key":"2021121002594428200_B8","first-page":"851","article-title":"Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.","volume":"60","author":"Carlson","year":"1997","journal-title":"Am J Hum Genet."},{"key":"2021121002594428200_B9","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1136\/jmg.30.10.807","article-title":"Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.","volume":"30","author":"Goldmuntz","year":"1993","journal-title":"J Med Genet."},{"key":"2021121002594428200_B10","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1016\/S0002-9149(96)00212-3","article-title":"Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis versus ventricular septal defect with pulmonic atresia.","volume":"78","author":"Digilio","year":"1996","journal-title":"Am J Cardiol."},{"key":"2021121002594428200_B11","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1136\/jmg.31.11.830","article-title":"Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.","volume":"31","author":"Seaver","year":"1994","journal-title":"J Med Genet."}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/104\/1\/87\/842320\/87.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/104\/1\/87\/842320\/87.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T09:29:05Z","timestamp":1639128545000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/104\/1\/87\/62478\/Prevalence-and-Parental-Origin-in-Tetralogy-of"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,7,1]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1999,7,1]]},"published-print":{"date-parts":[[1999,7,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.104.1.87","relation":{},"ISSN":["1098-4275","0031-4005"],"issn-type":[{"value":"1098-4275","type":"electronic"},{"value":"0031-4005","type":"print"}],"subject":[],"published":{"date-parts":[[1999,7,1]]}}}