Balanced translocation (10;13) in a father, ascertained through the study of meiosis in semen, and partial trisomy 10q in his son. Characterization of the region responsible for the partial trisomy 10q syndrome.
We describe a reciprocal translocation (10;13) in a man, ascertained through the study of meiosis in semen, and a partial trisomy 10q in his abnormal son. The phenotypic anomalies of the partial 10q trisomy syndrome are probably due to the presence in triplicate of the region q25 = to qter of chromosome 10.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D006130:Growth Disorders / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008540:Meiosis; D010641:Phenotype; D012661:Semen / Q000166:cytology; D014178:Translocation, Genetic; D014314:Trisomy