Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome

We describe an infant with trisomy of (5)(p10p13.1) resulting from a de nov o marker chromosome. The marker's origin was identified by chromosome micro dissection and reverse in situ hybridization. The clinical findings are com pared to those of other partial and complete 5p duplications. This case fur ther defines the critical region of 5p trisomy syndrome to proximal 5p. Am. J. Med. Genet. 87: 6-11, 1999. (C) 1999 Wiley-Liss, Inc.