Partial trisomy 20q in a newborn with dextrocardia.

Détails

ID Serval
serval:BIB_B780763B4BF3
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Partial trisomy 20q in a newborn with dextrocardia.
Périodique
Genetic Counseling
Auteur(s)
Addor M.C., Castagne C., Micheli J.L., Schorderet D.F.
ISSN
1015-8146
Statut éditorial
Publié
Date de publication
2002
Peer-reviewed
Oui
Volume
13
Numéro
4
Pages
433-440
Langue
anglais
Résumé
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.
Mots-clé
Chromosomes, Human, Pair 20, Dextrocardia, Female, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Karyotyping, Trisomy
Pubmed
Web of science
Création de la notice
28/02/2008 12:52
Dernière modification de la notice
20/08/2019 16:25
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