title: Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review.
abstract: A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct facial dysmorphism, including elongated face, narrow palpebral fissures, epicanthus, and broad nasal bridge. Other characteristic anomalies found only in some patients are retinal anomalies, lymphoedema of hands and feet, and prones to pulmonary infections.
authors.affiliation: Department of Medical Genetics, CSS Hospital, San Giovanni, Rotondo, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: F
authors.initials: F
authors.lastname: Torricelli
authors.forename: S
authors.initials: S
authors.lastname: Calvano
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D002883:Chromosomes, Human, Pair 14; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D012303:Ring Chromosomes; D013577:Syndrome