Gonadal dysgenesis and somatic stigmata in patients with 45,X/46,Xr(X) ring chromosome.
Two cases of gonadal dysgenesis and stigmata of Turner's syndrome with ring chromosome X are described. Their features support the idea that ring chromosome X should be considered as a deletion in the genetic sense, affecting both the gonadal and statural determinants. Without knowing the cytogenetic findings, these patients are usually labeled as having Turner's syndrome. Furthermore, endocrine data and histologic examination of the gonads are indistinguishable from those of individuals with 45,X or 46XX gonadal dysgenesis.
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D012303:Ring Chromosomes; D014960:X Chromosome