Molecularly defined interstitial tandem duplication 6p case with mild manifestations

An interstitial tandem duplication of 6p21.1-p22.2 was found in a girl at 1 1 months of age when she was evaluated for developmental delay. Previous ca ses reported with partial 6p duplication usually have involved terminal dup lications, with breakpoints ranging from 6p11 to 6p25. Our patient exhibits a milder phenotype compared to the previously reported cases in the litera ture. Features that she has in common with the other cases include craniofa cial anomalies, such as broad nasal bridge and bulbous tip, thin lips, inco mplete development of the scapha helix bilaterally, mild spastic paraparesi s of the lower extremities, gross motor delay, and mild cognitive delays. ( C) 2001 Wiley-Liss, Inc.