The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. - Université de Limoges Accéder directement au contenu
Article Dans Une Revue American Journal of Medical Genetics Part A Année : 2008

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.

Muriel Holder-Espinasse
  • Fonction : Auteur
Eric Bieth
  • Fonction : Auteur
Marie-Claire Vincent
  • Fonction : Auteur
Maroun Khoury
  • Fonction : Auteur
Joris Andrieux
  • Fonction : Auteur
Feng Zhang
James R Lupski
  • Fonction : Auteur
Rabih Klink
  • Fonction : Auteur
Anouck Schneider
  • Fonction : Auteur
  • PersonId : 765298
  • IdRef : 06764208X
Odile Goze-Martineau
  • Fonction : Auteur
Jean-Marie Cuisset
  • Fonction : Auteur
Louis Vallee
  • Fonction : Auteur
Sylvie Manouvrier-Hanu
  • Fonction : Auteur
Dominique Gaillard
  • Fonction : Auteur
Bérengère de Martinville
  • Fonction : Auteur

Résumé

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.

Dates et versions

hal-00651286 , version 1 (13-12-2011)

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Citer

Martine Doco-Fenzy, Muriel Holder-Espinasse, Eric Bieth, Corinne Magdelaine, Marie-Claire Vincent, et al.. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.. American Journal of Medical Genetics Part A, 2008, 146 (7), pp.917-924. ⟨10.1002/ajmg.a.32195⟩. ⟨hal-00651286⟩
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