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)
“Man is a victim of dope
In the incurable form of hope.”
—Ogden Nash (1902–1971)
“That piecemeal peace is poor peace. What pure peace allows
Alarms of wars, the daunting wars, the death of it?”
—Gerard Manley Hopkins (1844–1889)