Y Chromosome Material in Turner Syndrome

Area of Science:

• Genetics
• Human Chromosomal Abnormalities
• Molecular Diagnostics

Background:

• Turner syndrome (TS) is a common chromosomal disorder affecting females, characterized by distinct physical features and gonadal abnormalities.
• While most TS cases involve a 45,X karyotype, a subset harbors Y chromosome material, often undetected by standard methods.
• The presence of Y chromatin in TS is linked to an increased risk of gonadoblastoma, necessitating careful screening.

Purpose of the Study:

• To investigate the prevalence of Y chromosome mosaicism in Turner syndrome patients using advanced molecular techniques.
• To highlight the importance of screening for Y chromatin in TS for risk assessment and clinical management.

Main Methods:

• Fluorescence in situ hybridization (FISH) analysis was employed using Y whole chromosome probes.
• The study involved 28 patients diagnosed with Turner syndrome.

Main Results:

• The majority of participants (71.42%) presented with the classical 45,X karyotype.
• Y chromosome sequences were detected in one out of 28 (3.5%) Turner syndrome patients.

Conclusions:

• Routine screening for Y chromatin in Turner syndrome patients is recommended.
• Early detection of Y chromatin provides critical information for managing gonadoblastoma risk and informing patient care.