Ashton-Prolla P, Félix T M
Medical Genetics Unit, Hospital de Clínicas de Porto Alegre, Brazil.
Am J Med Genet. 1997 Jun 27;70(4):353-6.
Say syndrome is a rare condition characterized by cleft palate, short stature, and microcephaly. Abu-Libdeh et al. [1993: Am J Med Genet 45:358-360] described a case with cystic renal dysplasia. We describe monozygotic twins discordant for the syndrome with kidney dysplasia. A postzygotic mutation is proposed as the cause of this autosomal dominant syndrome in this case.
赛氏综合征是一种罕见病症，其特征为腭裂、身材矮小和小头畸形。阿布-利卜德等人[1993年：《美国医学遗传学杂志》45卷：358 - 360页]描述了一例患有囊性肾发育不良的病例。我们描述了一对患该综合征且伴有肾发育不良的单卵双胞胎，二者表现不一致。在本病例中，推测合子后突变是这种常染色体显性综合征的病因。
