The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
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.
Doco-Fenzy
Martine
M
Service de Génétique, Hôpital Maison-Blanche, CHRU, UFR de Médecine, Reims, France. mdocofenzy@chu-reims.fr
Holder-Espinasse
Muriel
M
Bieth
Eric
E
Magdelaine
Corinne
C
Vincent
Marie-Claire
MC
Khoury
Maroun
M
Andrieux
Joris
J
Zhang
Feng
F
Lupski
James R
JR
Klink
Rabih
R
Schneider
Anouck
A
Goze-Martineau
Odile
O
Cuisset
Jean-Marie
JM
Vallee
Louis
L
Manouvrier-Hanu
Sylvie
S
Gaillard
Dominique
D
de Martinville
Bérengère
B
D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male