Akademik Veri Yönetim Sistemi
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, cilt.31, sa.3, ss.706-711, 2011 (SCI-Expanded)
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::p11.2 -> qter)del(X) (p11.2 -> qter)[3] and %10 X chromatin. Chromosom setting was identified mos 45,X(%53)/ 46,XX,der(X)dup(X)(qter -> p22.3::p11.2 -> qter)del(X)(p11.2 -> qter)(%47) from the analysis of fibroblast cells. The karyotype was also identified as mos 46,XX.ish der(X),dup(p11.2qter)(LSI AR,DXZ1)x2,del(X)(p22.3pter)(subtel-) after FISH analysis. The karyotypes of the parents were normal. Our case with a karyotype of mosaic 45,X/46,XX,der(X)dup(X)(qter -> p22.3::p11.2 -> qter)del(X)(p11.2 -> qter) was discussed in terms of clinical findings comparing her with the similar cases in the literature, and genetic counseling has been advised.