Unbalanced 13q/21q translocation: a revised study of the case previously reported as 21-monosomy.
Reexamination was made on a male infant previously reported as 21-monosomy. Extensive chromosome banding analyses in the patient and parents disclosed an unbalanced de novo translocation between chromosomes 13 and 21. The patient's karyotype was interpreted as 45,XY,--13,--21+der(13),t(13;21) (q2 or 3;q1 or 2)pat. The patient showed many clinical features characteristic of 13q--syndrome.
D000782:Aneuploidy; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D003878:Dermatoglyphics; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic