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

Abstract

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.

Authors:
; ; ;
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
443851
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 60; Journal Issue: 3; Other Information: PBD: 19 Jun 1995
Country of Publication:
United States
Language:
English
Subject:
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

Citation Formats

Petersen, M B, Brondum-Nielsen, K, Hansen, L K, and Wulff, K. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country. United States: N. p., 1995. Web. doi:10.1002/ajmg.1320600317.
Petersen, M B, Brondum-Nielsen, K, Hansen, L K, & Wulff, K. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country. United States. https://doi.org/10.1002/ajmg.1320600317
Petersen, M B, Brondum-Nielsen, K, Hansen, L K, and Wulff, K. 1995. "Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country". United States. https://doi.org/10.1002/ajmg.1320600317.
@article{osti_443851,
title = {Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country},
author = {Petersen, M B and Brondum-Nielsen, K and Hansen, L K and Wulff, K},
abstractNote = {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.},
doi = {10.1002/ajmg.1320600317},
url = {https://www.osti.gov/biblio/443851}, journal = {American Journal of Medical Genetics},
number = 3,
volume = 60,
place = {United States},
year = {Mon Jun 19 00:00:00 EDT 1995},
month = {Mon Jun 19 00:00:00 EDT 1995}
}