| Cytogenetic Analysis of Chromosomal Abnormalities in Children. |
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Key Young Song, Kwang Man Kim, Joon Sik Kim, Hong Dae Cha, Heung Sik Kim, Chin Moo Kang |
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Department of Pediatrics, Keimyung University, School of Medicine, Taegu, Korea |
| 소아 염색체 이상의 세포유전학적 분석 |
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송기영, 김광만, 김준식, 차홍대, 김흥식, 강진무 |
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계명대학교 의과대학 소아과학교실 |
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Received: 21 June 1989 • Accepted: 19 September 1989 |
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| Abstract |
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The present report described the cytogenetic findings in 273 cases under the age of 15 years who
were suspected as having chromosomal abnormalities clinically.
The cytogenetic analysis was conducted at chromosome laboratory of Keimyung University School
of Medicne, from September 1982 to June 1987.
The following results were obtained.
Chromosomal abnormalities were found in 85 (31.3%) of the cases studied.
Of 85 cases, 41 cases (85.9%) had numerical abnormalities and 10 cases (14.1%) revealed structural
abnormalities.
Autosomal abnormalities were found in 71 cases (83.5%) of which Down syndrome was by far the
most frequently observed anomaly seen in 58 cases (81.7%). 14 cases (16.5%) had sex chromosomal
abnormalities in which Turner syndrome (5 cases) was most frequent.
Kleinefelter syndrome was seen in 1 case and Fragile X in 2 cases.
Out of 75 cases which were suspected as being Down syndrome clinically, abnormal findings were
found in 58 cases (77.3%).
The most frequent karyotype found in Down syndrome was 21-trisomy (82.8%) followed by
translocation (12.0%) and mosaicism (5.2%).
Out of 8 cases clinically suspected Turner syndrome, 4 cases (50%) showed abnormal chromosomes
and Kleinefelter syndrome was confirmed in 1 case (100%).
Various other clinical conditions such as sexual organ abnormality, hematologic disorder, growth
and developmental retardation, mental retardation, multiple minor defects and congenital heart
disease had lower proportion of chromosomal abnormalities showing less than 20%.
The maternal age of Down syndrome at delivery was between 25~29 years in 50%.
A significantly high rate of chromosomal abnormalities was found in a population with clinical
abnormalities in comparison to an unselected population. (0.48〜0.55%, reported in other series).
Chromosome analysis was very important for the dignosis of clinically suspected autosomal and
sex chromosomal abnormalities and also expected more developed karyotyping analysis for the
detection of abnormalities for minor groups which showed lower proportion of chromosomal abnor-
malities with present method. |
| Key Words:
Chromosomal abnormality, Children |
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