COSEGREGATION OF HYPERTROPHIC CARDIOMYOPATHY AND A FRAGILE SITE ON CHROMOSOME-16 IN A LARGE ITALIAN FAMILY

被引:14
作者
FERRARO, M [1 ]
SCARTON, G [1 ]
AMBROSINI, M [1 ]
机构
[1] UNIV ROME LA SAPIENZA,IST CHIRURG CUORE,CATTEDRA CARDIOL 2,I-00185 ROME,ITALY
关键词
D O I
10.1136/jmg.27.6.363
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We studied the karyotypes of 10 members of a family in whom hypertrophic cardiomyopathy is segregating as an autosomal dominant trait. In all those affected by the disease, a fragile site on the long arm of chromosome 16 was found, expressed with different frequencies, but the unaffected family members did not show this trait.
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页码:363 / 366
页数:4
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