| Physical Features, Karyotypes and Dermatoglyphics of 113 Children with Down Syndrome. |
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Byung Ho Lim, Kyoung Sim Kim, Ki Bok Kim |
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Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea |
| Down 증후군 113 례의 임상소견, 핵형 및
피문상의 특징 |
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임병호, 김경심, 김기복 |
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광주기독병원 소아과 |
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Received: 10 August 1987 • Accepted: 7 December 1987 |
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| Abstract |
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The physical features including dermatoglyphic patterns as well as the karyotype patterns were
assesed in 113 children with Down Syndrome who had been cytogenetically confirmed in the
Department during past 5 years from August 1981.
The results are summarized as follows:
1) The sex ratio of the patients was 1.2 male to one female.
2) Cytogenetic examination revealed 21-trisomy in 79% and translocation in 21% of all cases, with
no case of mosaicism found.
3) In 95 cases the maternal age at birth of the affected child was below 35 years, whereas 18 were
bom to a mother older than 35 years of age. The former group had 21-trisomy in 71 cases (75%) and
translocation in 24 cases (25%), while the latter group consisted solely of 21-trisomy, suggesting that
the proportion of 21-trisomy may increase with increasing maternal age at birth.
4) The most frequent feature encountered in these cases was the prominent epicanthal fold, which
was found in 89% of all cases. And other features noted were oblique palpebral fissure, high arched
palate, flat nasal bridge, broad and short hand, and muscular hypotonia in the decreasing order of
frequency.
5) The incidence of simian crease, clinodactyly, atd angle and ulnar loop of distal phalanges of
fingers was significantly higher in the Down cases than in the control group. No difference was noted
in dermatoglyphic patterns between 21-trisomy cases and those with translocation.
6) Congenital heart disease was, with 31%, the most frequently found associated anomaly, followed
by crytorchidism (18%), umbilical hernia (9%), pigeon chest (4%), funnel chest (4%), polydactyly (4%),
cleft uvula (3%), imperforate anus (2%), cleft palate (1%), syndactyly (1%), and hypospadia (1%). A
case of acute myelocytic leukemia (Mi type) was found. |
| Key Words:
Down syndrome, Dermatoglyphics, Karyotype |
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