Syndrome of facial, oral, and digital anomalies due to 7q21.2 -> q22.1 duplication

We report on an 18-year-old man with moderate mental retardation, multiple congenital anomalies and partial trisomy 7q21.2-->q22.1, as the unbalanced product of a familial balanced 7q/6q insertion translocation, To the best o f our knowledge, this is the first example of interstitial trisomy 7q21.2-- >q22.1 reported. The syndrome is characterized by the presence of facial, o ral, and digital anomalies: 1) macrocephaly with frontal bossing, hypertelo rism, small palpebral fissures with downward slant; 2) lobulated tongue, mu ltiple intrabuccal frenula, oligodontia and enamel hypoplasia; 3) cutaneous syndactyly of fingers II-III and III-IV, broad and short fingertips with f etal pads, broad thumbs, and halluces, Am. J, Med, Genet, 80:454-458, 1998, (C) 1998 Wiley-Liss, Inc.