title: 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.
authors.affiliation: Regional Epilepsy Center, Azienda Ospedaliera Bianchi Melacrino Morelli, Reggio Cal., Italy. u.aguglia@tin.it
authors.forename: U
authors.initials: U
authors.lastname: Aguglia
authors.forename: A
authors.initials: A
authors.lastname: Gambardella
authors.forename: G J
authors.initials: GJ
authors.lastname: Breedveld
authors.forename: R L
authors.initials: RL
authors.lastname: Oliveri
authors.forename: E
authors.initials: E
authors.lastname: Le Piane
authors.forename: D
authors.initials: D
authors.lastname: Messina
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
authors.forename: P
authors.initials: P
authors.lastname: Heutink
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D020863:Central Nervous System Cysts / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007558:Italy / Q000208:ethnology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D044465:White People / Q000235:genetics
chemical_list: D005819:Genetic Markers