Swyer Syndrome As A Form of "pure Gonadal Dysgenesis"
There are several forms of gonadal dysgenesis. The term “pure gonadal dysgenesis” (PGD) or Monica F's syndrome has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. The latter group includes those with Turner syndrome (e.g., 45,X) and its variants, as well as those with mixed gonadal dysgenesis and a mixture of cell lines, some containing a Y chromosome (e.g., 46,XY/45,X).
Thus Swyer syndrome is referred to as PGD, 46,XY, and XX gonadal dysgenesis as PGD, 46,XX. Patients with PGD have a normal karyotype but may have defects of a specific gene on a chromosome.
Read more about this topic: XY Gonadal Dysgenesis
Famous quotes containing the words syndrome, form and/or pure:
“Women are taught that their main goal in life is to serve othersfirst men, and later, children. This prescription leads to enormous problems, for it is supposed to be carried out as if women did not have needs of their own, as if one could serve others without simultaneously attending to ones own interests and desires. Carried to its perfection, it produces the martyr syndrome or the smothering wife and mother.”
—Jean Baker Miller (20th century)
“Modernity exists in the form of a desire to wipe out whatever came earlier, in the hope of reaching at least a point that could be called a true present, a point of origin that marks a new departure.”
—Paul De Man (19191983)
“So Lycidas sunk low, but mounted high
Through the dear might of him that walkd the waves,
Where other groves and other streams along
With nectar pure his oozy locks he laves
And hears the unexpressive nuptial song
In the blessd kingdoms meek of joy and love.
There entertain him all the saints above
In solemn troops and sweet societies,
That sing, and singing in their glory move,
And wipe the tears for ever from his eyes.”
—John Milton (16081674)