title: 18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.
abstract: The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.
authors.affiliation: Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it
authors.forename: R
authors.initials: R
authors.lastname: Zannolli
authors.forename: M
authors.initials: M
authors.lastname: Pierluigi
authors.forename: L
authors.initials: L
authors.lastname: Pucci
authors.forename: N
authors.initials: N
authors.lastname: Lagrasta
authors.forename: O
authors.initials: O
authors.lastname: Gasparre
authors.forename: M R
authors.initials: MR
authors.lastname: Matera
authors.forename: R M
authors.initials: RM
authors.lastname: Di Bartolo
authors.forename: M A
authors.initials: MA
authors.lastname: Mazzei
authors.forename: P
authors.initials: P
authors.lastname: Sacco
authors.forename: C
authors.initials: C
authors.lastname: Miracco
authors.forename: M M
authors.initials: MM
authors.lastname: de Santi
authors.forename: P
authors.initials: P
authors.lastname: Aitiani
authors.forename: S
authors.initials: S
authors.lastname: Cavani
authors.forename: L
authors.initials: L
authors.lastname: Pellegrini
authors.forename: M
authors.initials: M
authors.lastname: Fimiani
authors.forename: C
authors.initials: C
authors.lastname: Alessandrini
authors.forename: P
authors.initials: P
authors.lastname: Galluzzi
authors.forename: W
authors.initials: W
authors.lastname: Livi
authors.forename: S
authors.initials: S
authors.lastname: Gonnelli
authors.forename: P
authors.initials: P
authors.lastname: Terrosi-Vagnoli
authors.forename: M
authors.initials: M
authors.lastname: Zappella
authors.forename: G
authors.initials: G
authors.lastname: Morgese
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities; D002648:Child; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D012868:Skin Abnormalities; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014071:Tooth Abnormalities