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PMID: 3780031 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome.

Clinical genetics ·Vol. 30 ·No. 3 ·1986-09-00 ·Pages 154-6

Schmutz SM

Abstract

Four cases of duplication of a segment of 11p have been reported in patients with Beckwith-Wiedemann syndrome (Waziri et al. 1983, Turleau et al. 1984). We describe a patient with Beckwith-Wiedemann syndrome who has a deletion of chromosome 11(p11p13) and suggest involvement of this chromosomal region in both the duplicated and deleted states such as occurs in Prader-Willi syndrome.

MeSH Terms
Beckwith-Wiedemann Syndrome/genetics Chromosome Deletion Chromosomes, Human, Pair 11 Female Humans Infant
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Schmutz S M
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
Published
1986-09-00
Pages
154-6
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
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