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  • monosomy
  • Mapping the Turner phenotype is difficult since hidden mosaicisms, partial monosomy and complex rearrangements are present in many affected individuals. (osti.gov)
  • congenital
  • Turner syndrome is associated with an increased risk of congenital heart defects, congenital lymphoedema, renal malformations, hearing loss (conductive or sensorineural), osteoporosis, obesity, diabetes and an atherogenic lipid profile. (patient.info)
  • abnormalities
  • Seventy percent of adults with Turner Syndrome have abnormalities in glucose metabolism which can lead to diabetes. (clinicaltrials.gov)
  • The individuals were azoospermic males without phenotypic abnormalities (2 cases) and azoospermic males presenting with a specific subset of Turner stigmata (2 cases). (osti.gov)