Gustavson K H, Modrzewska K, Erikson A
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Clin Genet. 1989 Dec;36(6):439-41. doi: 10.1111/j.1399-0004.1989.tb03373.x.
Two young siblings with hereditary spastic diplegia and mental retardation (Böök's syndrome) have had detailed clinical investigations since infancy. The inheritance pattern of this syndrome in the present family fits well with an autosomal recessive trait--with affected sibs of opposite sex, born to consanguineous healthy parents.
两名患有遗传性痉挛性截瘫和智力发育迟缓(布克综合征)的年幼兄妹自婴儿期起就接受了详细的临床检查。在当前家族中,这种综合征的遗传模式与常染色体隐性特征高度契合——患病兄妹性别相反,其父母为近亲且身体健康。