Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis

Chromosome 1p duplications are rare. There have been only 11 reported cases of isolated 1p duplication, all of which were proximal, interstitial dupli cations. We present a patient with a terminal duplication of 1p (1p36.3). T o our knowledge, this is the first such reported case. Our patient presente d with metopic synostosis, rectal stenosis, atrial septal defect, and mildl y delayed gross motor development. Molecular characterization using microsa tellite marker analysis and fluorescence in situ hybridization (FISH) revea led an area of duplication between p58 and D1S2893, approximately 13 cM in size. We compare our patient's clinical findings with the clinical phenotyp e found in patients with the corresponding deletion of 1p36.3 and discuss t he role of gene dosage in other deletion/duplication syndromes.