PP11. THE CASE WITH PRİMARY AMENORRHEA PRESENTED WİTH A 46,X,del(X),(q23)
Ebru Etem, Hüseyin Yüce, ŞÜKRİYE DERYA DEVECİ Firat University, Firat Medical Center, Medical Biology and Genetic Department, 23119, Elazig, TURKEY e-mail: ddeveci38@hotmail.com
*Corresponding Author:
page: 52

Abstract

Text: Turner's syndrome is the most common chromosomal abnormality in womens, affecting 1:2,500 live female births. A variety of structural abnormalities have been identified for the X chromosome. Xq deletions were identified in 3-4.4% of cases with Turner's syndrome. The proposita presented at short stature, primary amenorrhea, hypoplasic uterus and hyperthyroidism. Case karyotype was determined as 46,X,del(X)(q23) by cytogenetic analysis of peripheral blood. This karyotype was not determined in cases presented with some Turner's syndrome stigmata in the literature. Xq- cases are variable phenotype. The most likely explanation for the variable phenotypic effect of Xq- is to assume that growth gene(s) in Xp or Xq are inactivated similar to skewed X inactivation seen in some X-autosome translocations. Another reason of phenotypic variation, inactivation center(s) and active genes on inactive chromosome could explain the manifestation or the absence of clinical symptoms in X deletions. The role played by the critical region (Xq13-q24) in ovarian development is still unclear.




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