CONFIRMATION OF PROXIMAL 1Q DUPLICATION USING FLUORESCENCE IN-SITU HYBRIDIZATION

We report on a boy with excessively wrinkled skin, mild micro/brachyce phaly with mild hydrocephalus and slightly small temporal lobes, appar ently low-set ears, retro/micrognathia and cleft soft palate (Pierre-R obin anomaly), patent ductus arteriosus and foramen ovale, pulmonary h ypoplasia, eventration of the left hemidiaphragm, right cryptorchidism , a sacral dimple, flexion contractures of fingers and knees, and equi novarus deformities of both feet. The infant had a de novo dir dup(1)( pter-->, q25::q12-->qter). Partial duplications involving proximal Iq have rarely been reported. Furthermore, this is the first case of prox imal duplication of chromosome Iq with unequivocal identification usin g fluorescence in situ hybridization (FISH) with a chromosome 1 painti ng probe. (C) 1994 Wiley-Liss, Inc.