Rare and Atypical Case of Turner Syndrome With Three Cell Lines

Turner's syndrome is a rare complex genetic disease characterized by gonadal dysgenesis and sexual chromosomal abnormalities. Half of the patients affected are monosomic, for the X chromosome, and for the remaining patients, a variety of chromosomal abnormalities have been reported. Only a small percentage (3%-4%) of people with Turner syndrome have triple X cell line mosaicism (47, XXX). It has been reported that patients 45, X/47, XXX have normal intelligence, a higher rate of spontaneous menstruation, an increased number of pregnancies, and a lower frequency of short stature (60%) compared to patients 45, X. In this work, we will present a rare and atypical case of a patient who presents a rare chromosomal mosaicism, with three chromosomal lineages, contrasting with a typical clinical picture of Turner syndrome.

Automated summary

Turner's syndrome is a rare genetic disease characterized by gonadal dysgenesis and chromosomal abnormalities. Triple X cell line mosaicism is found in only a small percentage of Turner syndrome patients. This study presents a rare and atypical case of a patient with three chromosomal lineages, in contrast to the typical clinical picture of Turner syndrome.