| Statistical Assessment on Chromosomal Aberrations observed on Childhood. |
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Seong Ho Kim1, Jeh Hoon Shin1, Soo Jee Moon1, Hahng Lee1, KeunSoo Lee1, Youl Hey Cho2, Myung So Ryu2, Young Kyun Paik2 |
1Department of Pediatrics, College of Medicine, Hanyang Uniersity, Seoul, Korea
2Department of Genetics, College of Medicine, Hanyang Uniersity, Seoul, Korea |
| 소아기 염색체 이상에 관한 통계적 고찰 |
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김성호1, 신재훈1, 문수지1, 이항1, 이근수1, 조율희2, 류명수2, 백용균2 |
1한양대학교 의과대학 소아과학교실
2한양대학교 의과대학 유전학교실 |
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Received: 1 August 1988 • Accepted: 1 August 1988 |
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| Abstract |
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Chromosomal studies were carried out in 730 patients at the Dept, of Pediatrics and Genetics,
Hanyang University Hospital, form December 1979 to April 1986.
A statistical assessment was carried out in 244 cases who have chromosomal aberrations.
The following results were obtained:
1) Chromosomal aberrations were observed in 244 cases among 730 cases, so the propotion of
chromosomal aberrations was 33%.
2) Age distribution revealed 53% of chromosomal aberrations to be under 1 year.
3) Sex distribution revealed boy to girl ratio to be 1.2:1.
4) In children with Down syndrome, Edwards syndrome Turner syndrome, Kleinefelter syndrome,
hermaphroditism, hematooncologic disease, mental and growth retardation and multiple congenital
defects, chromosomal aberrations were observed in 78%. 86%, 58%, 60%, 29%, 43%, 17% and 8%
respectively.
5) The most freguent karyotype revealed in Down syndrome was 21-trisony type (89.3%), followed
by mosaicism type (8.4%) and trauslocation type (2.3%).
6) The most frequent karyotype revealed in Turner syndrome was 45,X (36.4%), followed by 46, X,
i (Xq) including mosaics (27.2%), 45,X/46,XX (18.2%), and 45,X/46,XY (18.2%).
7) The most frequent karyotype revealed in hermaphroditism was 46,XY (3 cases), followed by 46,
XX/46,XY/47,XXY (2 cases), 46,XX (1 case) and 45,X/46,XY (1 case). |
| Key Words:
Chromosomal aberration, Statistical assessment |
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