World Turners Syndrome Day

 1938 – Henry H. Turner

• American endocrinologist Henry Hubert Turner (1892–1970) described a characteristic syndrome in seven young women.
• He noted the combination of:
  • Short stature
  • Sexual infantilism/ovarian dysfunction
  • Webbed neck
  • Cubitus valgus
• The disorder subsequently became known as Turner syndrome.

1959 – The chromosomal cause was discovered

• A major breakthrough came from Charles E. Ford and colleagues.
• Using improved human chromosome techniques, they demonstrated that some women with Turner syndrome had only 45 chromosomes, rather than the normal 46.
• The missing chromosome was identified as an X chromosome, establishing the classic karyotype: 45,X

Turners Syndrome 

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