• 4. Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. (nih.gov)
  • A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. (nih.gov)
  • mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are those of a typical male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized. (wikipedia.org)
  • Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinized genitalia. (wikipedia.org)
  • Edwards Syndrome A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. (nih.gov)