期刊
CUREUS JOURNAL OF MEDICAL SCIENCE
卷 15, 期 6, 页码 -出版社
SPRINGERNATURE
DOI: 10.7759/cureus.41128
关键词
karyotype; dysmorphic syndrome; amenorrhea; mosaicism; turner syndrome
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.
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.
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