The present report described the cytogenetic findings in 262 cases under the age of 15 years who were suspected as having chromosomal abnormalities clinically at department of pediatrics. Ewha womans university hospital. From May 1982 to April
1992.
@ES The following results were obtained.
@EN 1) Chromosomal abnormalities were found in 81(35%) of the cases studied.
2) Age distribution revealed 54% of all children subjected to chromosomal analysis to be under 1 month of age.
3) Sex distribution revealed boy to girl ratio to the 1.1 : 1.
4) In children with Down syndrome. Edwards syndrome. Patau syndrome. Cri-du-Chat syndrome, Turner syndrome. Klinefelter syndrome, growth and mental retardation. Hematooncologic disease. Multiple congenital anomaly were observed in 74%, 64%, 50%,
20%,
335, 33%, 12%, 13% and 16% respectively.
5) The most frequent karyotype revealed in Down syndrome was 21-trisomy type(94%). Followed by translocation type(4%) and mosaicism type(2%).
6) The most frequent karyotype revealed in Edwards syndrome was 18-trisomy type(88%). Followed by mosaicism type(12%).
7) The most frequent karyotype revealed in Patau syndrome was translocation type(67%), followed by 13-trisomy type(33%).
8) Among the various other clinical conditions such as sexual organ abnormality. Failure to growth and mental retardation. hematooncologic disease, multiple congenital anomaly and other suspected chromosomal anomaly. Chromosomal abnormality was
found
in 15 cases(10%) of 148 cases.
9) The maternal age of Down syndrome at delivery was between 20-29 years in 57%.
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