Rollnick B R, Kaye C I
Am J Med Genet. 1986 Jul;24(3):465-73. doi: 10.1002/ajmg.1320240309.
Isolated, apparently nonsyndromic cleft palate (CP) is thought to be etiologically heterogeneous. The multifactorial threshold explanation for CP is postulated in most cases. Mendelian inheritance has been documented in 3 families. We report on three unrelated white families with 17 relatives in several generations affected with CP, including submucous CP and bifid/absent uvula. We could find no evidence of a cleft syndrome. In one family, the pattern is consistent with autosomal dominant inheritance. In 2 families, the pattern is consistent with X-linked recessive inheritance. The specific findings and their implications for family evaluation and genetic counseling are discussed.
孤立性、明显非综合征性腭裂（CP）被认为在病因上具有异质性。大多数情况下假定CP存在多因素阈值解释。已有3个家族记录了孟德尔遗传情况。我们报告了3个不相关的白人家庭，几代人中共有17名亲属患CP，包括黏膜下腭裂和悬雍垂裂/缺如。我们未发现腭裂综合征的证据。在1个家庭中，遗传模式符合常染色体显性遗传。在2个家庭中，遗传模式符合X连锁隐性遗传。本文讨论了具体发现及其对家族评估和遗传咨询的意义。
