Characterization of Chromosome Abnormality by Fluorescence in Situ Hybridization

10.30047/JGMB.199512.0002

Li-Hui Tseng；Tsang-Ming Ko；Ming-Fung Pan；Pi-Mei Hsu；Fon-Jou Hsieh；Sou-Ming Chuang；Tzu-Yao Lee

marker chromosome ； fluorescence in situ hybridization

Journal of Genetics and Molecular Biology

6卷4期（1995 / 12 / 01）

54 - 58

英文

The characterization of two chromosomal abnormalities was done by fluorescence in situ hybridization (FISH) using centromere-specific probes and chromosome-specific plasmid libraries. One case for prenatal diagnosis was shown to have 46, XY, dic (9). The pregnancy resulted in a normal male baby. The other case was an amenorrheic girl. Conventional cytogenetics showed 45, X/46, X, +mar. FISH revealed the marker chromosome was derived from X chromosome, thus 45, X/46, X, der (X). No SRY specific sequences were detected by polymerase chain reaction. After hormone replacement treatment, she had withdrawal bleeding. The application of FISH to cytogenetic diagnosis provides us a more accurate and rapid interpreatation of chromosome abnormalities, which is valuable in the genetic counseling of prenatal and postnatal cytogenetic diagnosis.