Summary
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.
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References
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From the Chaudhuri Centre for Medical Genetics, Calcutta-14.
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Chaudhuri, A., Patel, S. & Chaudhuri, K.C. G21/G translocation chromosome in a boy with mongolism. Indian J Pediatr 33, 288–292 (1966). https://doi.org/10.1007/BF02775719
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DOI: https://doi.org/10.1007/BF02775719