A de novo 3p;8p unbalanced translocation resulting in partial dup(3p) and partial del(8p).
We present the first case of a de novo translocation resulting in dup(3p). Giemsa banding studies tentatively identified the source of the extra genetic material as 3p. Clinical findings were compatible with those previously reported in dup(3p) patients, further defining this cytogenetic anomaly as a distinct, clinically identifiable syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic