A Case of Chimeric Turner Syndrome with Normal Reproductive Function.

BACKGROUND

Turner syndrome (TS) is a common sex chromosome disorder with the highest incidence among chromosomal abnormalities. Most of the patients showed short stature, small uterus, ovarian atrophy with a stringy shape, external genital dysplasia, primary amenorrhea, infertility, breast agenesis, and other symptoms which are important causes of female infertility.

METHODS

Peripheral blood lymphocytes were cultured with 1,640 medium for 72 hours. The chromosome karyotypes were counted and analyzed after hypotonic operation, fixation, drop operation, and G-banding operation.

RESULTS

The peripheral blood chromosome karyotype of the pregnant woman was 45,X,9qh+[25]/46,XX,9qh+[75]. The case was a patient with chimeric TS, and her chromosome 9 was polymorphic.

CONCLUSIONS

The clinical phenotype of patients with chimeric TS cannot be determined solely by chromosome karyotype. The influences of somatic mosaics and X chromosome inactivation and other factors on the clinical phenotype should be considered. This study enriched the theoretical basis for prenatal diagnosis and genetic counseling of chimeric TS.