Le syndrome de Turner [Turner syndrome]

Détails

ID Serval
serval:BIB_EEB37DEC41A6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Le syndrome de Turner [Turner syndrome]
Périodique
Schweizerische Medizinische Wochenschrift
Auteur(s)
Monney C., Pescia G., Addor M.C.
ISSN
0036-7672
Statut éditorial
Publié
Date de publication
2000
Peer-reviewed
Oui
Volume
130
Numéro
38
Pages
1339-1343
Langue
français
Notes
English Abstract Journal Article --- Old month value: Sep 23
Résumé
This article is based on the study of 52 cases of Turner's syndrome, born between 1980 and 1996 and recorded in the Registry of Congenital Anomalies in the Canton of Vaud. In most cases the cytogenetic analysis was based on maternal multiple-marker screening, sonography findings or maternal age. The most common chromosome abnormality is complete monosomy X. The rare cases of mosaic and the one case of isochromosome mainly involve livebirths. Morphological analysis of foetuses revealed hygroma colli (84%) and hydrops (63%), frequently associated with major cardiac malformations. The livebirths present growth retardation, pterygium colli and facial dysmorphic features, but rarely complex malformations. In the light of our data, the probability of survival to birth is 0.8% and the prevalence in all clinical pregnancies is 1.1%.
Mots-clé
Female, Fetal Death, Humans, Infant, Newborn, Pregnancy, Prevalence, Registries, Switzerland, Turner Syndrome
Pubmed
Web of science
Création de la notice
28/02/2008 12:52
Dernière modification de la notice
03/03/2018 22:33
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