A Case of Variants of Turner syndrome Showing 46,X,inv(Y)/45,X Karyotype with Y Chromosome microdeletion / 대한산부인과학회지
Korean Journal of Obstetrics and Gynecology
;
: 892-898, 2006.
Article
Dans Coréen
| WPRIM
| ID: wpr-11021
ABSTRACT
46,X,inv(Y)/45,X mosaicism is a extremely rare sex chromosomal disorder. We experienced an unusual mosaic Turner syndrome case in a 29-years old Korean woman with a phenotypic female, primary amenorrhea and immature secondary sexual characteristics. Cytogenetic analysis including GTG banding revealed 46,X,inv(Y)(q11.2q12?)[15]/45,X[35] mosaicism, and X/Y chromosome Fluorescence in situ hybridization (FISH) analysis result was ish (SRY-,DYZ3-)[16]/ ish der(Y)del(Y)(q12)inv(Y)(p11.3q12)(SRY sp, DYZ3-)[4] and its meaning was coexistence of microdeletion and inversion of Y chromosome. To our knowledge, this karyotype may be a very rare variant of Turner syndrome, and we report this case with brief review of related literature.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Syndrome de Turner
/
Chromosome Y
/
Hybridation in situ
/
Maladies chromosomiques
/
Analyse cytogénétique
/
Caryotype
/
Fluorescence
/
Aménorrhée
/
Mosaïcisme
Limites du sujet:
Adulte
/
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Korean Journal of Obstetrics and Gynecology
Année:
2006
Type:
Article
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