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Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases |
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| Authors: | Ram S. Verma Harvey Dosik |
| Affiliation: | Divisions of Hematology and Cytogenetics, The Jewish Hospital and Medical Center, Brooklyn, N.Y. and Department of Medicine, State University of New York Downstate Medical Center, Brooklyn, New York, U.S.A. |
| Abstract: | The present report describes the cytogenetic findings in 357 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. Chromosomal anomalies were found in 97 (27.2 %) of the cases studied. A significantly high rate of chromosomal abnormalities was found in a population with clinical abnormalities in comparison to an unselected population (0.48–0.55 %). |
| Keywords: | Chromosomal abnormalities Down syndrome Klinefelter syndrome Turner syndrome |