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Title: [Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression]. Author: Frankova YE, Holenova H, Braulke I. Journal: Monatsschr Kinderheilkd; 1991 Dec; 139(12):841-3. PubMed ID: 1770961. Abstract: A female infant with partial trisomy 3p, facial dysmorphism, cleft palate and severe psychomotor retardation is described. Cytogenetic evaluation revealed a paternal balanced translocation which could also be detected in three relatives of the father. The observed clinical features of the patient are discussed by comparison with 47 previously reported cases.[Abstract] [Full Text] [Related] [New Search]