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Title: De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q12q14). Author: Antich J, Carbonell X, Mas J, Clusellas N. Journal: Acta Paediatr Scand; 1983 Jul; 72(4):631-3. PubMed ID: 6624439. Abstract: A male neonate with severe malformations, including facial dysmorphism, a short neck, postaxial-hexadactyly of the toes, congenital heart disease, hydronephrosis, imperforate anus and agenesis of corpus callosum, is described. His karyotype was 46,XYdel(2)(q12q14).[Abstract] [Full Text] [Related] [New Search]