Chromosomal analyses of 4,500 cases of the peripheral blood: An experience in a single hospital for 25 years / 소아과

PURPOSE: Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. METHODS: Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. RESULTS: We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. CONCLUSION: In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

A Cytogenetic Study in Patients with Sex Chromosome Abnormalities / 소아과

PURPOSE: This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. METHODS: Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. RESULTS: The relative frequencies of different sex chromosome abnormalities were Klinefelter (52 percent), Turner (42 percent), XXX syndrome (3 percent) and mixed gonadal dysgenesis (3 percent). The populations of different karyotypes in Klinefelter syndrome were 47, XXY (97 percent) and 46, XY/ 47, XYY (3 percent). The populations of different karyotypes in Turner syndrome were 45, X (67 percent, ), mosaicism (23 percent), and structural aberrations (10 percent). The populations of different karyotypes in XXX syndrome were 47, XXX (67 percent, ) and 46, XX/47, XXX (33 percent). All mixed gonadal dysgenesis were 45, X/46, XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. CONCLUSION: Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

Establishment of Korean Neuroblastoma Cell Line (NBL-K1) / 대한소아혈액종양학회지

PURPOSE: A new continuous cell line, NBL-K1, was established in tissue culture from a Korean child with stage IV neuroblastoma, arising from the adrenal gland, which had normal urinary excretion of VMA and HVA and diagnosed by light and electron microscope. METHODS: Clinical characteristics of patient was high ferritin level, normal neuron specific enolase, and normal urinary VMA and HVA. The small tissue specimen obtained from surgically resected tumor was minced with a mosquito scissors and scalpels and cultured in L-15 medium with 17% FBS (37oC and 5% CO2). Chromosome analysis was performed from bone marrow cell culture with a method of high resolution banding using methotrexate and thymidine and TGT staining. Chromosomes were analyzed by ISCN. The N-myc amplification was checked by N-myc primers, PCR, and gel electrophoresis. RESULTS: The cells were attached to the bottom of culture flask on 4th day of culture and composed of a small and elongated cell body with relatively abundant granules in cytoplasm and oval shaped nucleus with one prominent nucleoli and slender nerve-like fiber. Cell clumps were observed on 10th day of culture. The morphology was changed to round cell when trypsin was added. The chromosome analysis revealed two kinds of hyperdiploidy. No cell contained homogeneously stained region (HSR). But numerous double minutes (DMs) were observed. N- myc oncogene of the NBL-K1 was not amplified. The cultured cells with many black immunobeads around the surface considered to be the neuroblastoma cells. CONCLUSION: The characteristic Korean neuroblastoma cell line (NBL K-1) was estblished for the future studies of in vitro chemosensitivity test, monoclonal antibody and xenograft.