Le syndrome de Turner [Turner syndrome]
Details
Serval ID
serval:BIB_EEB37DEC41A6
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Le syndrome de Turner [Turner syndrome]
Journal
Schweizerische Medizinische Wochenschrift
ISSN
0036-7672
Publication state
Published
Issued date
2000
Peer-reviewed
Oui
Volume
130
Number
38
Pages
1339-1343
Language
french
Notes
English Abstract Journal Article --- Old month value: Sep 23
Abstract
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%.
Keywords
Female, Fetal Death, Humans, Infant, Newborn, Pregnancy, Prevalence, Registries, Switzerland, Turner Syndrome
Pubmed
Web of science
Create date
28/02/2008 12:52
Last modification date
20/08/2019 17:16