Send to:

Choose Destination
See comment in PubMed Commons below
Bull Acad Natl Med. 2003;187(2):359-67; discussion 368-70.

[Turner syndrome and mosaicism].

[Article in French]

Author information

  • 1Service de Génétique Médicale-Hôpital des Enfants-CHU Pellegrin-Place Amélie Raba-Léon-33076 Bordeaux.


Turner's syndrome is a gonadosomatic dysgenesis of female phenotype due to a more or less complete monosomy of one of the X chromosomes leading to a haploinsufficiency of the development genes situated at the level of the pseudoautosomal region of the gonosomes. Further experience of the karyotype showed a preponderance of mosaics and considerable variability of Turner's phenotype in proportion to the number of 45, X cells. The rare cases of monozygotism discordant with variable tissular distribution mosaics show that the phenotypic expression is a genic dosage effect. In patients with TS it would thus be of interest to study a second tissue such skin fibroblasts when a discordance is observed between the phenotype and the karyotype.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk