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Title: [Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34]. Author: Turleau C, Séger J, de Grouchy J, Doré F, Job JC. Journal: Ann Genet; 1978 Sep; 21(3):189-92. PubMed ID: 315197. Abstract: A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1. The gene localization may thus be excluded from bands 13q33 and q34 and assigned to bands q31 or q32, if its previous assignment to the q3 region is confirmed.[Abstract] [Full Text] [Related] [New Search]