| Cytogenetic Study on Chromosome Aberration in Children. |
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Chong Woo Bae1, Chang Il Ahn1, Bo Hoon Oh2, Kap Soon Ju2 |
1Department of Pediatrics, School of Medicine, Kyung Hee University
2Cytogenetic Lab., Department of Obstet. and Gyneco,School of Medicine, Kyung Hee University |
| 소아기 염색체이상의 세포유전학적 관찰 |
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배종우1, 안창일1, 오보훈2, 주갑순2 |
1경희대학교 의과대학 소아과학교실
2경희대학교 의과대학 세포유전학연구실 |
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| Abstract |
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We have conducted a retrospective study on chromosomal aberrations in children, aged under 15
years old, who had been refered to cytogenetic laboratory at Kyung Hee University Hospital from
1977 to 1986
Base upon the Karyotypes of lymphocytes and chart records, the following results were obtained;
1) Chromosomal aberrations of various types were found in 101 cases in children.
2) Age distribution revealed 65.3% were under the 1 year of age.
3) Sex distribution revealed male to female ratio to be 1.3: 1. One case of intersex was observed.
4) Autosomal aberrations were found in 88 cases (87.1%), sex chromosomal aberrations were found
in 13 cases (12.9%).
5) In order of frequency, 75 cases (73.4%) of Down syndrome, 9 cases (8.9%) of Turner syndrome,6 cases (5.9%)
of translocation (except translocated type of Down syndrome), 3 cases of Edward syndorme, 3 cases of
deletion type, etc were observed.
6) Among the 75 cases of Down syndrome, the most frequent karyotype revealed 65 cases (86.7%)
of 21-trisomy, followed by 7 cases (9.3%) of translocation and 3 cases (4.0%) of mosaicism.
7) Two cases of Philadelphia chromosome in patient of chronic myelogenous leukemia and 2 cases
of reciprocal translocation (eg, t (3: 13), t (4: 14) in patient of acute nonlymphoblastic leukemia (M2type)
were observed.
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| Key Words:
Chromosomal aberration, Karyotype
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