A Case of mos 45,X/46,X, +mar. ish der(X)(wcpX+) Turner Syndrome.
- Author:
Moon Hee KIM
1
;
Young Mi JEON
;
So Young SHIN
;
Tae Eun JUNG
;
Yun Mi PARK
;
Sun Hoe KOO
;
Jong Woo PARK
Author Information
1. Department of Clinical Pathology, Chungnam National University College of Medicine, Taejeon, Korea
- Publication Type:Case Report
- Keywords:
Turner syndrome;
FISH;
mosaicism
- MeSH:
Chromosome Aberrations;
Female;
Humans;
In Situ Hybridization, Fluorescence;
Mosaicism;
Turner Syndrome*;
Vagina;
X Chromosome
- From:Korean Journal of Clinical Pathology
1999;19(4):453-455
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Turner syndrome is a genetic disorder that affects about 1/2,000-1/5,000 females born. The typical female with Turner syndrome has only one X chromosome in each of her cells. There are several variations on this theme as other similar chromosome anomalies occur in females with Turner syndrome. We observed a patient with short stature, abscent vagina and chromosomal abnormality. Chromosomal analysis of the patient showed 45,X/46,X, +mar. The marker chromosome was revealed as X chromosome in fluorescent in situ hybridization (FISH). We report a case of mos 45,X/46,X,+mar.ish der(X)(wcp X+) in Turner syndrome with a brief review of literature.
