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Top-level
Now, typically a fertilised egg with a 46XY karyotype will go on to have a penis and testes, and produce sperm. With a 46XX karyotype, it will go on to have a uterus and ovaries, vagina and vulva, and produce eggs. Typically. There are lots of variations. 2 comments
Her fertility could be explained by mosaicism - where cells in the same body are slightly different due to mutations. The woman did display mosaicism. In her skin cells, 80% of cells had a 46XY karyotype... the rest had a 45X karyotype. 45X - having only one X chromosome - is called Turner syndrome. Individuals with Turner syndrome are very seldom fertile. |
Gregory's Server
The woman's family came to the attention of doctors because many members of her family had intersex traits or a history of infertility. Her daughter had a 46XY karyotype - she saw a doctor because she hadn't developed breasts or started her periods at age 17. Due to her family history, they decided to undertake karyotyping of her mother, who had given birth to her...
Every cell in her mother's blood had a 46XY karyotype, too.