Article
Molecular and clinical study of 61 Angelman syndrome patients.
American journal of medical genetics - 15 Aug 1994
Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J
Abstract excerpt
We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and spo...
Topics
- Adolescent
- Angelman Syndrome
- Child
- Child, Preschool
- Chromosome Banding
- Chromosomes, Human, Pair 15
- Female
- Genetic Markers
- Genomic Imprinting
- Humans
- Karyotyping
- Male
- Pedigree
- Phenotype
- Pigmentation Disorders
- Sequence Deletion