Number of the records: 1  

dysgenéza gonád, zmiešaná

  1. Record numberd006060
    Date06.06.2025
    TypeM - MESH
    Topical termdysgenéza gonád, zmiešaná
    Other termEnglish (Pseudonym) Mixed Gonadal Dysgenesis
    Slovak (Pseudonym) dysgenéza gonadálna zmiešaná
    UDCC12.050.351.875.253.309.391C12.050.351.875.253.795.249C12.200.706.316.309.391C12.200.706.316.795.249C12.800.316.309.391C12.800.316.795.249C16.131.260.830.835.249C16.131.939.316.309.391C16.131.939.316.795.249C16.320.180.830.835.249C19.391.119.309.391C19.391.119.795.249
    NoteA 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.
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Number of the records: 1  

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