Robinson L K, Wolfsberg E, Jones K L
Am J Med Genet. 1985 Sep;22(1):109-15. doi: 10.1002/ajmg.1320220112.
We have evaluated a family in whom a mildly affected mother and her two severely affected sons have manifestations of the Brachmann-de Lange syndrome suggesting that some cases of this disorder are inherited in an autosomal dominant fashion. Documentation of the clinical phenotype in two generations of this family permits further delineation of the phenotypic spectrum of the disorder. The fact that most affected patients represent sporadic cases in otherwise normal families might represent the inability of severely affected individuals to reproduce.
我们评估了一个家族，其中轻度患病的母亲和她的两个重度患病儿子有 Brachmann-de Lange 综合征的表现，这表明该疾病的某些病例是以常染色体显性方式遗传的。对这个家族两代人的临床表型进行记录，有助于进一步明确该疾病的表型谱。大多数受影响患者在其他方面正常的家庭中表现为散发病例，这一事实可能表明重度受影响个体无法生育。
