title: The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
abstract: The p11.2-p12 region of human chromosome 17 is gene rich and composed of at least two genomically unstable domains: the Smith-Magenis syndrome region (17p11.2) and the Charcot-Marie-Tooth region (17p12), both of which are flanked by several low-copy repeat sequences. Homologous recombination between these flanking repeats results in either deletion- or duplication-associated phenotypes caused by a gene dosage effect. We report on the clinical phenotype of three patients presenting with either a 17p11.2 or 17p11.2p12 duplication, revealed by chromosome analysis and confirmed by fluorescent in situ hybridization analysis, high resolution genomic analysis of the 17p region using oligonucleotide array comparative genomic hybridization, and molecular studies with microsatellite markers. Two patients carry the 17p11.2 duplication, while the third one shows a larger duplication including the 17p12 region. The facial features observed in our patients include triangular face, full cheeks, smooth philtrum, thin upper lip, dental malocclusion, irregular eyebrows, and sparse hair, all of which are consistent with the pure proximal dup 17p phenotype. The patients' other clinical features are compared with previously published cases.
authors.affiliation: Service de Génétique, Hôpital Maison-Blanche, CHRU, UFR de Médecine, Reims, France. mdocofenzy@chu-reims.fr
authors.forename: Martine
authors.initials: M
authors.lastname: Doco-Fenzy
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder-Espinasse
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.forename: Corinne
authors.initials: C
authors.lastname: Magdelaine
authors.forename: Marie-Claire
authors.initials: MC
authors.lastname: Vincent
authors.forename: Maroun
authors.initials: M
authors.lastname: Khoury
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Rabih
authors.initials: R
authors.lastname: Klink
authors.forename: Anouck
authors.initials: A
authors.lastname: Schneider
authors.forename: Odile
authors.initials: O
authors.lastname: Goze-Martineau
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Cuisset
authors.forename: Louis
authors.initials: L
authors.lastname: Vallee
authors.forename: Sylvie
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: Dominique
authors.initials: D
authors.lastname: Gaillard
authors.forename: Bérengère
authors.initials: B
authors.lastname: de Martinville
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male