Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country

Journal Article · Mon Jun 19 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320600317· OSTI ID:443851

Petersen, M B; Brondum-Nielsen, K; Hansen, L K; Wulff, K

Angelman syndrome (AS) was initially considered a rather rare abnormality, but in later years, with the possibilities for cytogenetic and molecular diagnosis an increasing number of patients have been reported. The incidence is quoted to be around 1:20,000. The etiology of AS is associated with the lack of maternal allele(s) of one or more loci at 15q11-q13, and is considered an effect of parental imprinting of that region, since a similar deficiency of paternal alleles leads to Prader-Willi syndrome. 9 refs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 443851
• Journal Information: American Journal of Medical Genetics, Vol. 60, Issue 3; Other Information: PBD: 19 Jun 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 15
GENETIC MAPPING
CHROMOSOMAL ABERRATIONS
GENES
GENE MUTATIONS
PATIENTS
HEREDITARY DISEASES
KARYOTYPE
DIAGNOSIS
ETIOLOGY
DENMARK
DNA HYBRIDIZATION