| Review of Chromosomal Analyses Performed in a Single Hospital |
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Hong Kug Kim, Nam Hyang Koo, Jin Soon Hwang, Sung Hwan Kim |
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Department of Pediatrics, Ajou University College of Medicine, Suwon, Korea |
| 단일 병원에서 시행한 염색체 분석 검사의 고찰 |
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김홍국, 구남향, 황진순, 김성환 |
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아주대학교 의과대학 소아과학교실 |
Correspondence:
Jin Soon Hwang, Email: pedhwang@ajou.ac.kr
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| Abstract |
Purpose
: Chromosomal aberration has an effect on the lives of both patients and families. Peripheral blood chromosomal analysis is useful to make a diagnosis and counsel the patient with chromosomal abnormality. We studied the cases with peripheral blood chromosomal analyses and investigated the positivity of peripheral blood chromosomal analysis.
Methods
: We analyzed 650 patients with chromosomal analyses in Ajou University Hospital during the past 10 years. We used a high-resolution banding technique to diagnose the chromosomal aberrations.
Results
: The male to female ratio of the patients was 1.1 : 1. Among 650 patients, 108 patients had chromosomal aberrations(16.6%). Fifty seven out of 313 patients with the congenital anomalies or dysmorphologies had chromosomal aberrations. twenty six out of 166 patients with hematologic disorders had chromosomal aberrations. Fifteen out of 109 patients with developmental delay had chromosomal aberrations. Four out of 24 patients with seizures had chromosomal aberrations. Six out of 39 patients with the aberrant perinatal histories had chromosomal aberrations.
Conclusion
: Peripheral blood chromosomal analysis is an important diagnostic method in managing patients with chromosomal aberrations. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberration and be useful in managing patients with chromosomal abnormalities. |
| Key Words:
Chromosomes, Aberrations |
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