可能为常染色体隐性遗传性马凡综合征。
Probable autosomal recessive Marfan syndrome.
作者信息
Fried K, Krakowsky D
出版信息
J Med Genet. 1977 Oct;14(5):359-61. doi: 10.1136/jmg.14.5.359.
Abstract
A probable autosomal recessive mode of inheritance is described in a family with two affected sisters. The sisters showed the typical picture of Marfan syndrome and were of normal intelligence. Both parents and all four grandparents were personally examined and found to be normal. Homocystinuria was ruled out on repeated examinations. This family suggests genetic heterogeneity in Marfan syndrome and that in some rare families the mode of inheritance may be autosomal recessive.
摘要
在一个有两名患病姐妹的家庭中描述了一种可能的常染色体隐性遗传模式。这两名姐妹表现出典型的马凡综合征症状，智力正常。对父母双方以及所有四位祖父母均进行了亲自检查，发现他们都正常。经多次检查排除了同型胱氨酸尿症。这个家庭表明马凡综合征存在遗传异质性，并且在一些罕见家庭中，其遗传模式可能是常染色体隐性遗传。
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