Related Experiment Video
Updated: Jun 16, 2026

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad
Ageliki Karatza1, Dionisios Chrysis, Eunice-Georgia Stefanou
1Department of Pediatrics, University of Patras Medical School, Rio, Greece.
Abstract:
We report on a neonate with a disorder of sex development, Prader 3-4 external genitalia and a palpable structure in the right inguinal canal suggestive of gonadal tissue. Chromosome studies on blood lymphocytes showed monosomy of chromosome X. Laparoscopy identified a streak-like gonad on the left side, unicorn uterus and a dysgenetic testis on the right, attached to a Fallopian tube. Because of the unilateral palpable gonad and the presence of ambiguous genitalia we investigated further for the presence of Y material. Quantitative fluorescent PCR analysis of material from the dysgenetic gonad and skin fibroblasts revealed the presence of chromosome Y-derived sequences, suggesting sex chromosome mosaicism. In 45,X/46,XY mosaicism, chromosome studies carried out on peripheral lymphocytes do not always reflect the proportion of cell lines in the gonads. The detection of Y chromosome material in a dysgenetic gonad is extremely significant, due to the high risk of malignant transformation.
More Related Videos
Related Concept Videos
The Y Chromosome Determines Maleness
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
Nondisjunction
Nondisjunction
Nondisjunction
X and Y Chromosomes
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
Meiosis vs. Mitosis
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...

