Summary
A 4 year old girl with physical and mental retardation but few other abnormalities was found to have an unbalanced karyotype, 47,XX,6-,t(6q,20p?)+,t(14q,6q)+, resulting in partial trisomy-14. This arose by aberrant segregation of chromosomes during meiosis in her mother, who has a complex translocation involving chromosomes 6, 14 and 20.
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This work was supported in part by Research Grants GM 18 153, HD 00339 and Training Grnat 5T01 HD 00 118 from the National Institutes of Health. OJM is a Career Scientist of the Health Research Council of the City of New York.
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Allderdice, P.W., Miller, O.J., Miller, D.A. et al. Familial translocation involving chromosome 6, 14 and 20, identified by quinacrine fluorescence. Humangenetik 13, 205–209 (1971). https://doi.org/10.1007/BF00326943
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DOI: https://doi.org/10.1007/BF00326943