Research Paper: 2004 Aguglia

Date Published: 05/11/2004

Summary: Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly

Abstract: A large three-generation family with autosomal dominant type 1 porencephaly from southern Italy was studied. A high rate of miscarriages was observed. Of the nine affected individuals, four displayed a severe phenotype, and five had slight pyramidal signs or mild cognitive abnormalities. The MRI study disclosed unilateral porencephalic cyst, or colpocephaly. A genome-wide screen resulted in suggestive evidence for linkage to chromosome 13qter with a maximum logarithm-of-the-odds score of 3.16, from multipoint analysis, with marker D13S285.

Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly