Ewha Med J.  1992 Jun;15(2):93-100. 10.12771/emj.1992.15.2.93.

Clinical Study of Chromosomal Aberrations in Childhood

  • 1Department of Pediatrics, College of Medicine, Ewha Womans University, Korea.


The present report described the cytogenetic findings in 262 cases under the age of 15 years were suspected as having chromosomal abnormalities clinically at department of pediatrics. Ewha womans university hospital. from May 1982 to April 1992. The following results were obtained 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 be 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%. 33%. 33%, 12%. 13% and 16% respectively. 5) The most frequent karyotype revealed in Down syndrome was 2l-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 delivary was between 20-29 years in 57%.

MeSH Terms

Age Distribution
Chromosome Aberrations*
Cri-du-Chat Syndrome
Down Syndrome
Intellectual Disability
Klinefelter Syndrome
Maternal Age
Sex Distribution
Turner Syndrome
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