Trisomy Xq and Xp Deletion Phenotype in a Case with Primary Amenorrhea and Mosaic 45,X/46,X,der(X) Karyotype: Case Report

Abstract

The samples of a 18-year-old girl who had a short stature and complaints of hair loss and amenorrhea were sent to our laboratory with a pre-diagnosis of primary amenorrhea. We tried to explain genotype-phenotype relationship with karyotype analysis. Cytogenetic analysis was carried out via cultures of blood lymphocytes and skin fibroblasts, and trypsin Giemsa banding (GTG) method. Molecular cytogenetic analysis was applied with fluoroscene in situ hybridization (FISH) method. In addition, X chromatin analysis was carried out on the epithelium of the buccal mucosa. On physical examination, the patient was 150 cm tall and she weighed 48 kg. Her body mass index was 22 and other physical examination findings were normal. In the laboratory examination, FSH, LH and TSH were found to be heigh. Abdominal and pelvic ultrasonography revealed a right multicystic ovary. The karyotype analysis of the peripheric blood sample was found to be mos 45,X[97]/46,XX,der(X)dup(X)(qter -> p22.3