Abstract

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.

DOI: 10.7754/Clin.Lab.2024.240504