Summary
This paper describes a female patient with a duplication deficiency syndrome resulting from a hitherto undescribed familial translocation (2q-; 5p+). In addition to marked mental retardation, the patient shows multiple somatic abnormalities.
The chromosomal anomaly was traced in a balanced form in three preceeding generations. Besides a detailed description of clinical data, the results of chromosomal, familial and genetic studies as well as data on growth and development are discussed.
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Bijlsma, J.B., De France, H., Bleeker-Wagemakers, E.M. et al. Duplication deficiency syndrome in familial translocation (2q-; 5p+). Hum Genet 12, 110–122 (1971). https://doi.org/10.1007/BF00291466
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DOI: https://doi.org/10.1007/BF00291466