Related Experiment Video
Updated: Jul 8, 2026

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
Mosaic ring X chromosome in a case of secondary amenorrhea
Alexandra Chrisoulidou1, Helen Bili, Eleni Georgiou
1Unit of Endocrinology, Theageneion Hospital, Thessaloniki, Greece. alexri@otenet.gr
Objective:
To report an unusual case of secondary amenorrhea in a 17-year-old adolescent with normal sexual development who proved to have a karyotype 46,XX/46,X,+ringX/47,XX,+ringX.
Design:
Case report.
Setting:
Hospital, tertiary level of clinical endocrine care.
Patient(S):
A 17-year-old patient with secondary amenorrhea and normal sexual characteristics with no stigmata of Turner syndrome.
Intervention(S):
Clinical history, hormonal markers, cytogenetic analysis.
Main Outcome Measure(S):
Cytogenetic analysis by G-banding technique, multicolor fluorescence in situ hybridization, and multicolor banding analysis on peripheral blood lymphocytes.
Result(S):
The presence of mosaicism in 12% of metaphases indicating a ring X chromosome with one or two normal X chromosomes, forming a karyotype 46,XX/46,X, +ringX/47,XX,+ringX.
Conclusion(S):
Our findings indicate the necessity for cytogenetic studies in certain cases of amenorrhea. This is a very rare karyotype in patients with secondary amenorrhea.
Related Concept Videos
X-Inactivation
X-inactivation
Inheritance of Chromatin Structures
Nondisjunction
Nondisjunction
Meiosis II
The timing and cell division patterns of meiosis differ between males and females. In male meiosis, the centrosomes are part of the formation of the meiotic spindle. However, in oocytes, including that of humans, Drosophila,...

