title: A constitutional 5q23 deletion.
abstract: A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other cases monosomic for a part of the 5q13-q31 segment, the constitutional 5q interstitial deletions fall into two groups: adult patients with Gardner-like symptoms and mental retardation associated with deletion 5q21-q22, and patients (mostly children) with unspecific signs and symptoms and different deletions.
authors.affiliation: Biologia Generale e Genetica Medica, Università di Pavia, Italy.
authors.forename: H
authors.initials: H
authors.lastname: Rivera
authors.forename: P
authors.initials: P
authors.lastname: Simi
authors.forename: S
authors.initials: S
authors.lastname: Rossi
authors.forename: L
authors.initials: L
authors.lastname: Pardelli
authors.forename: M C
authors.initials: MC
authors.lastname: Di Paolo
mesh_terms: D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005736:Gardner Syndrome / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability