Korean J Obstet Gynecol.  2002 Dec;45(12):2244-2249.

Detection of Y Chromosome-specific Sequences in Patients with Turner Syndrome

• Choi SH
• Choi YM
• Park SH
• Chang ER
• Bai KB
• Yang SW
• Kim SH
• Seol HW
• Oh SK
• Moon SY

Abstract

Existence of Y derived chromosome in Turner patients is significant due to the risk of gonadoblastoma development, but cytogenetic analysis may fail to detect low levels of Y chromosomal materials. Recent studies using PCR based methods showed higher sensitivity to detect Y-specific sequences, in patients who were Y chromosome-negative cytogenetically. In this study PCR was performed on 44 Turner patients with no Y chromosome by cytogenetic analysis to detect the SRY, AMELY, ZFY, and DYZ1 sequences. Of seven patients whose karyotypes were 45,X/46,X,+mar, three patients were positive for SRY, ZFY, and AMELY. DYZ1 sequences was negative in them. And any of SRY, ZFY, AMELY, and DYZ1 sequences was detected in the remaining 37 patients. This result shows that PCR analysis for Y-specific sequences in Turner patients, especially in patients who have marker chromosome is a significant effort.

Keyword

Turner syndrome; Y chromosome; SRY gene; marker chromosome; ZFY gene; amelogenin gene; DYZ1 gene

MeSH Terms

Cytogenetic Analysis
Genes, sry
Gonadoblastoma
Humans
Karyotype
Polymerase Chain Reaction
Turner Syndrome*
Y Chromosome