Partial trisomy D: a diagnostic and cytogenetic dilemma.
An 18-month-old proposita with psychomotor retardation and other congenital abnormalities is presented. Chromosomal analysis of both parents proved normal. However, the karyotype of the proposita contained 47 chromosomes in both lymphocytes and cultured fibroblasts. The marker chromosome proved to be a deleted No. 14 or 15. Comparison of the reported cases of partial trisomy D indicates that a definitive clinical syndrome is not apparent in either case.
D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D014314:Trisomy