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KMID : 0375219930080010037
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Journal of Il Sin Christian Hospital
1993 Volume.8 No. 1 p.37 ~ p.50
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Clinical Features of 37 Children with Down Syndrome
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Abstract
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The physical features as well as the karyotype patterns were assessed in 37 children with Down Syndrome who had been cytogenetically confirmed in the department during past 4 years from Jan. 1990 to Dec. 1993.
@ES The results are summarized as follows:
@EN 1) Age distribution of Down syndrome was from 1 day old age to 5 years old age and the female: male sex ratio was 1.5:1.
2) Cytogenetic examination revealed 21 trisomy in 90% of al case, 3 cases of translocation and 1 case of mosaicism.
3) The maternal age at birth of the affected child was highest between 25 years old and 29 years old. In 32 cases, the maternal age at birth of the affected child was below 30 years, 29 years old. In 32 cases, the maternal age at birth of the
affected
child was below 30 years, 21 trisomy was 28 cases (70%), translocation was 3 cases and mosaicism was 1 case but in 5 cases, the maternal age was above 30 years, the group consisted solely of 21 trisomy.
4) The most frequent feature encountered in these cases was the hypotonia, which was found in 89% of all cases. And other features noted were flat nasal bridge, short broad hand and oblique palpebral fissure in the decreasing orders of
frequency.
There
was no case of brushfield spot.
5) Congenital heart disease was with 43%, the most frequently found associated anomaly, followed by syndactyly(5%) and duodenal obstruction(5%). A case of MDS type V was found.
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