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[Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression]
Y E Frankova1, H Holenova, I Braulke
1Abteilung für Medizinische Genetik, Fakultätskliniken, Karls-Universität, Prag.
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.