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:
“[T]he syndrome known as life is too diffuse to admit of palliation. For every symptom that is eased, another is made worse. The horse leech’s daughter is a closed system. Her quantum of wantum cannot vary.”
—Samuel Beckett (1906–1989)
“Human development is a form of chronological unfairness, since late-comers are able to profit by the labors of their predecessors without paying the same price.”
—Alexander Herzen (1812–1870)
“So Lycidas sunk low, but mounted high
Through the dear might of him that walk’d 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 bless’d 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 (1608–1674)