[Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression]. / Partielle Trisomie des kurzen Arms von Chromosom 3. Fallbeschreibung und Expression des Phänotyps.

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.