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A phenotypically normal female with pseudodicentric X: correlation for statural genes.
L A Gole1, V Annapoorna, J Lim
1Department of Obstetrics and Gynaecology, National University Hospital, Singapore. obggolel@nus.edu.sg
Singapore Medical Journal
|January 29, 2002
Summary
This study describes a rare variant of Turner syndrome in a 14-year-old female with primary amenorrhea. Genetic analysis revealed a unique dicentric X chromosome, confirming a complex chromosomal abnormality.
Area of Science:
- Genetics
- Reproductive Endocrinology
- Human Cytogenetics
Background:
- Turner syndrome is a chromosomal condition affecting females, typically characterized by a missing or partially missing X chromosome.
- Primary amenorrhea and underdeveloped secondary sexual characteristics are common clinical manifestations requiring detailed etiological investigation.
Observation:
- A 14-year-old Chinese female presented with primary amenorrhea and signs of incomplete pubertal development.
- Cytogenetic analysis identified a 46,XX karyotype with a structurally abnormal X chromosome: a dicentric X chromosome with duplication from Xp22.1 to Xqter.
Findings:
- The patient's karyotype was confirmed as 46, XX, psu dic X (p22.1) (Xqter:Xp22.1::Xp22.1:Xqter), a rare variant of Turner syndrome.
- Fluorescence in situ hybridization (FISH) using X centromeric probes was crucial for confirming the presence of two centromeres and excluding other X chromosome aneuploidies.
Implications:
- This case highlights the genetic heterogeneity of Turner syndrome and the importance of advanced cytogenetic techniques for accurate diagnosis.
- Understanding such chromosomal variants is essential for genetic counseling and managing reproductive health in affected individuals.