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One parent was definitely affected with Noonan syndrome in only 14% of the 117 families (mother 11%, father 3%). In a further 31% of families, one parent had possible signs of Noonan syndrome, based on facial appearance only. Within the apparently sporadic group of probands there was no evidence of increased parental age. Echocardiography demonstrated no cases of subclinical cardiac disease in all first degree relatives examined, and clinical examination alone missed no case of cardiac disease. Segregation analysis of affected pedigrees confirmed autosomal dominant inheritance. If both parents had only possible or no signs of Noonan syndrome, subsequent to the birth of the first child with Noonan syndrome in a family, an empiric recurrence risk of 5% was obtained. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450407","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:27:53Z","timestamp":1118507273000},"page":"437-440","source":"Crossref","is-referenced-by-count":40,"title":["Genetic counselling in Noonan syndrome"],"prefix":"10.1002","volume":"45","author":[{"given":"Michael","family":"Sharland","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maureen","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gill","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Burch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael A.","family":"Patton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.1.9"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210307"},{"key":"e_1_2_1_4_1","first-page":"110","article-title":"The Noonan syndrome\u2014a clinical study of 45 cases","volume":"8","author":"Char FC","year":"1972","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80527-X"},{"key":"e_1_2_1_6_1","first-page":"75","volume-title":"Principles and Practise of Medical Genetics","author":"Davie A","year":"1983"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100106"},{"key":"e_1_2_1_8_1","first-page":"36","article-title":"XX and XY Turner phenotype in a family","volume":"120","author":"Levy EP","year":"1970","journal-title":"AM J Dis Child"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210312"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1968.02100020377005"},{"key":"e_1_2_1_11_1","first-page":"468","article-title":"Associated non cardiac malformations in children with congenital heart disease","volume":"63","author":"Noonan JA","year":"1963","journal-title":"J Pediatr"},{"key":"e_1_2_1_12_1","volume-title":"Medical Genetics: Principles and Practise","author":"Nora JJ","year":"1981"},{"key":"e_1_2_1_13_1","first-page":"48","article-title":"The Ullrich Noonan syndrome (Turner phenotype)","volume":"127","author":"Nora JJ","year":"1974","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_14_1","first-page":"343","article-title":"Direct familial transmission of the Turner phenotype","volume":"116","author":"Nora JJ","year":"1968","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)90622-7"},{"key":"e_1_2_1_16_1","unstructured":"Office of Population Censuses and Surveys(1986) FM1 (13) HMSO."},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(67)92042-9"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02012.x"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450406"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80027-2"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T04:57:50Z","timestamp":1698296270000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,2,15]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,2,15]]}},"alternative-id":["10.1002\/ajmg.1320450407"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450407","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,2,15]]}}}