Bear J C
Clin Genet. 1976 Mar;9(3):277-84. doi: 10.1111/j.1399-0004.1976.tb01575.x.
A family is reported of 500 facial cleft index cases, attendees for plastic surgery review at hospitals in northern England. Cases displaying malformation syndromes (29 cases, 5.8% of series) were excluded from analysis, after which CL +/- P and CP pedigree data were examined for evidence of polygenic inheritance. The frequencies of affected among parents, aunts and uncles, and first cousins of 324 CL +/- P index cases are respectively 21, 6 and 4 times the population incidence. The sex ratio among index cases increases with severity of defect. Both of these findings are in good agreement with the polygenic mode of inheritance favored for this condition. The frequencies of affected among parents, aunts and uncles, and first cousins of 147 CP index cases are respectively 30, 5, and 9 times the population incidence. Since syndrome-associated clefts have been excluded from analysis, this elevated incidence in first cousins favors the suggestion that multiple genetic forms of CP may exist.
报道了一个由500例面部裂指数病例组成的家族，这些病例均前往英格兰北部医院接受整形手术复查。分析时排除了表现出畸形综合征的病例（29例，占系列病例的5.8%），之后对唇裂±腭裂（CL +/- P）和腭裂（CP）家系数据进行了检查，以寻找多基因遗传的证据。324例CL +/- P指数病例的父母、姑姑和叔叔以及一级表亲中受影响的频率分别是人群发病率的21倍、6倍和4倍。指数病例中的性别比随缺陷严重程度增加。这两个发现都与这种情况所支持的多基因遗传模式高度一致。147例CP指数病例的父母、姑姑和叔叔以及一级表亲中受影响的频率分别是人群发病率的30倍、5倍和9倍。由于与综合征相关的腭裂已被排除在分析之外，一级表亲中这种升高的发病率支持了可能存在多种CP基因形式的观点。
