Karyotype - Phenotype Associations in Patients with Turner Syndrome.
Karyotype
Phenotype
Turner syndrome
Journal
Pediatric endocrinology reviews : PER
ISSN: 1565-4753
Titre abrégé: Pediatr Endocrinol Rev
Pays: Israel
ID NLM: 101202124
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
entrez:
28
6
2019
pubmed:
28
6
2019
medline:
11
7
2019
Statut:
ppublish
Résumé
Variation in karyotype may be associated with the phenotype of patients with Turner syndrome (TS). Our objective was to identify these associations between karyotype and phenotype in TS patients. This study was part of the European multicentre dsd-LIFE study. We evaluated the associations between different karyotypes of TS patients and age at diagnosis, Turner stigmata, cardiac/renal involvement and gonadal function. Information was available for 328 TS patients. Participants had a monosomy 45,X (46%), mosaicism 45,X/46,XX (10%), karyotype with isochromosome (18%), or other karyotype (26%). The clinical signs of TS were the most severe in patients with monosomy 45,X and the least severe in patients with mosaicism 45,X/46,XX. Patients with isochromosome and y-material showed an intermediate phenotype. Despite the more severe features in patients with monosomy 45,X, the median age at diagnosis was only slightly lower compared to patients with other karyotypes, which suggests opportunities for improvement of knowledge and diagnostics.
Identifiants
pubmed: 31245938
pii: IdType="doi>"10.17458/per.vol16.2019.nvt.karyotypeturnersyndrome
doi: 10.17458/per.vol16.2019.nvt.karyotypeturnersyndrome
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
431-440Informations de copyright
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