Partial trisomy 20q in a newborn with dextrocardia.

Details

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
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
Pubmed
Web of science
Create date
28/02/2008 11:52
Last modification date
20/08/2019 15:25
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