Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome.

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Serval ID
serval:BIB_6DBE546CD6CE
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome.
Journal
American Journal of Medical Genetics
Author(s)
Zankl A., Addor M.C., Gaide A.C., Thonney F., Cousin P., Schorderet D.F., Gudinchet F., Nenadov-Beck M.
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Publication state
Published
Issued date
2000
Volume
95
Number
5
Pages
510-512
Language
english
Notes
Publication types: Case Reports ; Letter
Publication Status: ppublish
Keywords
Adrenocortical Adenoma/pathology, Adult, Beckwith-Wiedemann Syndrome/diagnosis, Beckwith-Wiedemann Syndrome/genetics, Child, Preschool, Chromosome Banding, Chromosomes, Human, Pair 11/genetics, Chromosomes, Human, Pair 12/genetics, Chromosomes, Human, Pair 2/genetics, Chromosomes, Human, Pair 6/genetics, Female, Gene Rearrangement/genetics, Haplotypes, Humans, Insulin-Like Growth Factor I/genetics, Insulin-Like Growth Factor II/genetics, Microsatellite Repeats, Pedigree, Postoperative Complications, Translocation, Genetic, Trisomy/genetics
OAI-PMH
oai:serval.unil.ch:BIB_6DBE546CD6CE
DOI
10.1002/1096-8628(20001218)95:5<510::AID-AJMG18>3.0.CO;2-V
Pubmed
11146475
Web of science
000165633300018
Create date
20/03/2008 9:34
Last modification date
20/08/2019 14:27
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