Kondo E, Saito K, Toda T, Osawa M, Yamamoto T, Kobayashi M, Fukuyama Y
Department of Pediatrics, Tokyo Women's Medical College, Japan.
Am J Med Genet. 1996 Dec 11;66(2):169-74. doi: 10.1002/(SICI)1096-8628(19961211)66:2<169::AID-AJMG8>3.0.CO;2-M.
Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by a combination of primary muscular dystrophy of early infantile onset and brain malformation (lissencephaly type II). The identification of the FCMD gene locus at 9q31 opened the theoretical possibility of prenatal diagnosis. The authors conducted prenatal diagnosis in two unrelated FCMD families by analysis using nine microsatellite CA-repeat polymorphic markers flanking the FCMD locus, and calculated phenotype probabilities in fetuses with a computer program, LINKAGE. The fetus in family 1 showed a 99% probability of being healthy either as a normal homozygote or a heterozygote carrier and was born without signs of FCMD. In family 2, the fetus was diagnosed to have FCMD with at least 86% probability. The parents of this family decided to terminate the pregnancy and an abortus showed brain malformations characteristic of an FCMD fetus.
福山型先天性肌营养不良（FCMD）是一种常染色体隐性疾病，其特征为早发性原发性肌营养不良与脑畸形（II型无脑回畸形）并存。9号染色体长臂31区FCMD基因位点的确定为产前诊断提供了理论可能。作者通过使用位于FCMD位点两侧的9个微卫星CA重复多态性标记进行分析，对两个无亲缘关系的FCMD家系进行了产前诊断，并使用计算机程序LINKAGE计算胎儿的表型概率。家系1中的胎儿作为正常纯合子或杂合子携带者，健康概率为99%，出生时无FCMD迹象。在家族2中，胎儿被诊断患有FCMD的概率至少为86%。该家族的父母决定终止妊娠，流产胎儿显示出FCMD胎儿特有的脑畸形。
