A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7-
month-old boy with growth retardation, psychomotor delay and craniofacial,
brain, limb, and genital anomalies. Fluorescent in situ hybridization using
a chromosome 6 paint probe demonstrated that the extra material belonged t
o chromosome 6, Although it has been suggested that 6p25 is the critical ba
nd involved in the expression of the phenotype of 6p duplication, compariso
n of the clinical findings of this case with those from the literature case
s showed strong similarities, (C) 2000 Wiley-Liss, Inc.