Partial trisomy 8q resulting from maternal translocation t(2;8)(q373;q23).
A patient with multiple congenital malformations due to partial 8q trisomy is reported. Karyotype-phenotype correlations suggest the possibility that partial trisomy 8q is a nosologically distinct syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy