Cytogenetic study in 14,402 patients referred for suspected congenital disorders in Korea: YUMC 31 years experience from 1974 to 2004 years / 대한산부인과학회지

ABSTRACT

OBJECTIVE: To make a guideline for cytogenetic study and diagnosis through systematic analysis of types and the incidences of chromosomal abnormalities obtained from various types of congenital disorder in Korea. METHODS: The cytogenetic study was performed on 14,402 patients with suspected chromosomal abnormalities at our genetic laboratory of the medical research center between January 1, 1974 to December 31, 2004 and additionally the FISH (Fluorescence in situ hybridization) study was done on 272 patients between January 1, 1998 to December 31, 2004. RESULTS: Total number of case requiring cytogenetic study were 33 in starting year (1974) and by 1983, the number increased rapidly to 481 cases. The number of case was maximum of 894 cases in 1993 and it started to decline from 1996 to 714. Overall chromosomal aberrations were 2,100 cases (14.58%). Autosomal chromosomal abnormalities were 1,257 cases (8.73%). Among those cases, Down syndrome was 848 cases (5.89%), Edward syndrome was 38 cases (0.26%), and Patau syndrome was 6 cases (0.04%) in order of frequency. Sex chromosomal abnormalities were 843 cases (5.85%) in total. Among those cases, Turner syndrome was 527 cases (3.66%), Kleinfelter syndrome was 267 cases (1.85%). Chromosomal abnormality rate in 535 couples with recurrent spontaneous abortions was 5.98% (32 couples). And chromosomal aberration in 1068 cases with primary amenorrhea was 63.95% (683 cases). The diagnostic rate of microdeletion syndrome by FISH method was 22.71%, and marker chromosome was 20.56%. CONCLUSION: From cytogenetic analysis of 14,402 cases performed in single institute during 31 years, we performed a study on the types and the incidences of chromosomal abnormalities. We hope we could suggest a guideline for studies and treatments of congenital disorders in Korea. Along with the cytogenetic study, FISH study was also required.