Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.
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.
Aguglia
U
U
Regional Epilepsy Center, Azienda Ospedaliera Bianchi Melacrino Morelli, Reggio Cal., Italy. u.aguglia@tin.it
Gambardella
A
A
Breedveld
G J
GJ
Oliveri
R L
RL
Le Piane
E
E
Messina
D
D
Quattrone
A
A
Heutink
P
P
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
D005819:Genetic Markers