Summary
Two cases of trisomy 21q223 with the Down's phenotype were analysed by in situ hybridization with specific probes previously located in the sub-bands 21q221 (SOD-A) and 21q223 (BCEI and COL6A). These studies give evidence that the clinical picture of Down's syndrome is at least to a great extent correlated with trisomy for the 21q223 band.
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Pellissier, M.C., Laffage, M., Philip, N. et al. Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization. Hum Genet 80, 277–281 (1988). https://doi.org/10.1007/BF01790097
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DOI: https://doi.org/10.1007/BF01790097