Title

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.

Document Type

Article

Abstract

Abnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin.

Keywords

Angelman Syndrome, Child, Chromosome Deletion, Chromosomes, Human, Pair 15, DNA, DNA Probes, Humans, Male, Methylation, Pedigree, Prader-Willi Syndrome

Medical Subject Headings

Angelman Syndrome; Child; Chromosome Deletion; Chromosomes, Human, Pair 15; DNA; DNA Probes; Humans; Male; Methylation; Pedigree; Prader-Willi Syndrome

Publication Date

10-1-1993

Publication Title

American journal of medical genetics

ISSN

0148-7299

Volume

47

Issue

5

First Page

683

Last Page

686

PubMed ID

8266996

Digital Object Identifier (DOI)

10.1002/ajmg.1320470519

This document is currently not available here.

Share

COinS