Exp Mol Med.  2000 Mar;32(1):38-41.

Detection of cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome

• Kim JW
• Cho EH
• Kim YM
• Kim JM
• Han JY
• Park SY

Abstract

Turner syndrome is one of the most common cytogenetic abnormalities. It is known that the Y chromosome or Y derived material is present in 6-9% of TS patient and it may develop a high risk of gonadoblastoma in 15-25%. So it is crucial to carry out cyto genetic analysis and Y-specific probe studies for all persons with gonadal dysgenesis to rule out mosaicism with Y-bearing cell line; eg 45,X/46,XY. In this study, 26 archival slides previously analyzed cytogenetically as 45,X, 45,X/46,X,i(X), 45,X/46,X,r(X), and 45,X/46,XX were examined. Coamplification PCR, having the advantage of providing rapid result and confirming PCR failure, was performed with the slide samples in the regions of dystrophin gene in Xp21and DYZ3 in the Y centromeric region. All of archived slides were positive for X-specific gene and one slide of 45,X was found to have the cryptic Y chromosome material. Our result suggests that the archived cytogenetic slides could be applied for the detection of Y chromosome rapidly and efficiently in TS patients.

Keyword

archived slide; coamplification PCR; Turner syndrome; cryptic Y chromosome

MeSH Terms

Biopsy
Centromere/genetics
Cytogenetic Analysis
DNA/genetics
DNA/analysis
Dystrophin/genetics
Female
Human
Karyotyping
Male
Mosaicism*
Polymerase Chain Reaction
Time Factors
Tissue Preservation
Turner's Syndrome/pathology
Turner's Syndrome/genetics*
X Chromosome/genetics
Y Chromosome/genetics*