Partial trisomy 20q in a newborn with dextrocardia.

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Serval ID
serval:BIB_B780763B4BF3
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
Partial trisomy 20q in a newborn with dextrocardia.
Journal
Genetic Counseling
Author(s)
Addor M.C., Castagne C., Micheli J.L., Schorderet D.F.
ISSN
1015-8146
Publication state
Published
Issued date
2002
Peer-reviewed
Oui
Volume
13
Number
4
Pages
433-440
Language
english
Abstract
A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare chromosomal anomaly are reviewed.
Keywords
Chromosomes, Human, Pair 20, Dextrocardia, Female, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Karyotyping, Trisomy
OAI-PMH
oai:serval.unil.ch:BIB_B780763B4BF3
Pubmed
12558114
Web of science
000180532600007
Create date
28/02/2008 12:52
Last modification date
20/08/2019 16:25
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