Unbalanced 4;6 translocation and progressive renal disease

Two sibs are described with an unbalanced 4;6 translocation resulting in pa rtial trisomy 6p and monosomy for distal 4p, Growth retardation, psychomoto r retardation, and characteristic facial appearance are present. The facial anomalies include high prominent forehead, blepharoptosis, blepharophimosi s, high nasal bridge, bulbous nose, long philtrum, small mouth with thin li ps, and low-set ears. Both children have small kidneys and have had protein uria since early childhood. The older boy developed progressive renal disea se including hypertension and renal failure necessitating renal transplanta tion at age 18 years. Renal biopsy of the younger girl also indicates signi ficant renal involvement, Progressive renal disease is likely an important part of the trisomy 6p phenotype, Am, J, Med. Genet. 95:275-280, 2000, (C) 2000 Wiley-Liss, Inc.