The first translocation mongol occurring in a series of 20 patients with mongolism is reported. The infant possessed the classical features of mongolism except for the epicanthic fold, the fissured tongue and simian line. The translocation, a G21/G interchange, was absent in the parents, hence the possibility of the sporadic rather than the inherited type of translocation.
The implications of these findings with respect to genetic counselling, based on the frequency of this type of translocation in the mongol population, are discussed.
Genetic Counselling Translocation Chromosome Reciprocal Translocation Satellite Association Chromosomal Finding
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in to check access.
Giannelli, F., Hamerton, J. L. and Carter, C. O. (1965). Cytogenetics of Down's syndrome (mongolism) II. The frequency of interchange trisomy in patients born at a maternal age of less than 30 years.Cytogenetics,4, 186.CrossRefGoogle Scholar
Hamerton, J. L., Giannelli, F. and Polani, P. E. (1965). Cytogenetics of Down's syndrome (mongolism) I. Data on a consecutive series of patients referred for genetic counselling and diagnosis.Cytogenetics,4, 171.CrossRefGoogle Scholar
Lejeune, J., Gautier, M. and Turpin R. (1959). Etude des chromosomes somatiques de neuf enfants mongoliens.C. R. Acad. Sci. (Paris),248, 1721.Google Scholar
Ohno, S., Trujillo, J. M., Kaplan, W. D. and Kinosita, R. (1961). Nucleolus organizers in the causation of chromosomal anomalies in man.Lancet,2, 123.PubMedCrossRefGoogle Scholar
Polani, P. E. (1966). Chromosome anomalies and abortions.Devel. med. and child. neurol.8, 67.CrossRefGoogle Scholar
Polani, P. E., Briggs, J. H., Ford, C. E., Clarke, C. M. and Berg, J. M. (1960). A mongol girl with 46 chromosomes.Lancet,1, 721.PubMedCrossRefGoogle Scholar
Polani, P. E., Hamerton, J. L., Giannelli, F. and Carter, C. O. (1965). Cytogenetics of Down's syndrome (mongolism) III. Frequency of interchange trisomies and mutation rate of chromosome interchanges.Cytogenetics,4, 193.CrossRefGoogle Scholar