title: [Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression].
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.
authors.affiliation: Abteilung für Medizinische Genetik, Fakultätskliniken, Karls-Universität, Prag.
authors.forename: Y E
authors.initials: YE
authors.lastname: Frankova
authors.forename: H
authors.initials: H
authors.lastname: Holenova
authors.forename: I
authors.initials: I
authors.lastname: Braulke
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
vernacular_title: Partielle Trisomie des kurzen Arms von Chromosom 3. Fallbeschreibung und Expression des Phänotyps.