Summary
Reexamination was made on a male infant previously reported as 21-monosomy. Extensive chromosome banding analyses in the patient and parents disclosed an unbalanced de novo translocation between chromosomes 13 and 21. The patient's karyotype was interpreted as 45,XY,-13,-21,+der(13),t(13;21) (q2 or 3;q1 or 2)pat. The patient showed many clinical features characteristic of 13q- syndrome.
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Ikeuchi, T., Kondo, I., Sasaki, M. et al. Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy. Hum Genet 33, 327–330 (1976). https://doi.org/10.1007/BF00286861
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DOI: https://doi.org/10.1007/BF00286861