Gonadal Dysgenesis, Mixed
A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
Year introduced: 1991(1980)
PubMed search builder options
Subheadings:
Tree Number(s): C12.050.351.875.253.309.391, C12.050.351.875.253.795.249, C12.200.706.316.309.391, C12.200.706.316.795.249, C12.800.316.309.391, C12.800.316.795.249, C16.131.260.830.835.249, C16.131.939.316.309.391, C16.131.939.316.795.249, C16.320.180.830.835.249, C19.391.119.309.391, C19.391.119.795.249
MeSH Unique ID: D006060
Entry Terms:
Previous Indexing: