Summary
A boy with multiple anomalies including atresia of the esophagus, ventricular septal defect, horseshoe kidney and some minor anomalies is described. His karyotype was 46,XY, der(5), t(4;5) (q31;p15)pat,i.e., he was partially trisomic for a distal segment of long arm of no.4.
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Oka, S., Nakagome, Y., Honda, T. et al. A case of distal 4q trisomy due to familial (4;5)(q31;p15) translocation. Jap J Human Genet 23, 167–172 (1978). https://doi.org/10.1007/BF02001799
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DOI: https://doi.org/10.1007/BF02001799