[An investigation of small marker chromosome in eight Turner syndrome patients by fluorescence in situ hybridization and DNA analysis].
摘要
OBJECTIVE: To direct genetic counseling and identify the origin of small marker chromosome in patients with Turner syndrome stigmata. METHODS: The specific primer on the sex determining region on Y (SRY) and biotin labeled X- and Y-chromosome DNA probes were utilized in the analysis of sex chromosome-derived markers. The PCR product from the amplification was detected on agarose gel, and fluorescence in situ hybridization (FISH) was conducted to metaphase chromosome. RESULTS: In 8 patients who had a small marker chromosome, five markers were derived from the X chromosome and three from the Y chromosome. Two patients with a Y-derived marker were determined by Y-chromosome probe as well as by SRY sequences amplification. One patient with a Y-derived marker was only demonstrated by FISH. CONCLUSION: The findings of this study demonstrate successfully the value and necessity of FISH utilizing DNA probes combined with specific amplification on SRY gene in the identification of sex chromosome marker. Such identification is important not only for clinical care, but also for understanding phenotype-karyotype correlations.