Summary
A case of an inherited type of D/G translocation D1-trisomy syndrome was described. A female proposita who had the clinical signs of D1-trisomy syndrome was found to have a chromosome complement of 46,XX,-G,+t(DqGq). Examination of Q- and G-stained karyotypes revealed that the chromosomes involved in the translocation were members of Nos. 13 and 22, or t(13q22q) with breaks at p12 of both chromosomes. C-stained figures also showed a large heterochromatin block in its centromeric region. The t(13q22q) chromosome was transmitted from the paternal grandmother of the proposita through at least three generations.
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Abe, T., Morita, M., Kawai, K. et al. Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome. Humangenetik 30, 207–215 (1975). https://doi.org/10.1007/BF00279186
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DOI: https://doi.org/10.1007/BF00279186