One thousand children ranging from newborns to 13 years of age with a variety of clinical disorders were referred to us to investigate the possible presence of chromosomal abnormalities. Various types of chromosomal anomalies were found in 166 children (16.6%), which is significantly (p < 0.01) higher than in an unselected (control) population (0.48–0.55%). The male:female ratio was 3:2 for the total population. Furthermore, in our survey population, the sex ratio of Down’s syndrome cases of males to females was 3:2.
We report on the incidence of chromosomal abnormalities in 1,400 amniocenteses. Thirty-one cases (2.21 %) were found to have various types of chromosomal abnormality. The majority of abnormal cases (54.84%) were trisomies. All individuals with trisomic fetuses chose to terminate the pregnancy with the exception of one who gave birth to a Down’s syndrome child. However, fetuses with apparently balanced translocations were phenotypically normal at birth.
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