A Case of mos 45,X/46,X, +mar. ish der(X)(wcpX+) Turner Syndrome / 대한임상병리학회지

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.