title: A malformed girl with a de novo proximal 6q deletion.
abstract: An additional case of interstitial deletion of chromosome 6, the first with breakpoints in q12 and q14, is reported. The female infant was the malformed first child of young, healthy parents. A review of proximal 6q deletions is made.
authors.affiliation: Centro di Genetica Medica, Ospedale Civile, Avellino, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Lonardo
authors.forename: M
authors.initials: M
authors.lastname: Colantuoni
authors.forename: B
authors.initials: B
authors.lastname: Festa
authors.forename: G
authors.initials: G
authors.lastname: Gentile
authors.forename: G
authors.initials: G
authors.lastname: Guerritore
authors.forename: L
authors.initials: L
authors.lastname: Perone
authors.forename: B
authors.initials: B
authors.lastname: Santulli
authors.forename: V
authors.initials: V
authors.lastname: Ventruto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D007223:Infant