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

Martine Doco-Fenzy, Muriel Holder-Espinasse, Eric Bieth, Corinne Magdelaine, Marie Claire Vincent, Maroun Khoury, Joris Andrieux, Feng Zhang, James R. Lupski, Rabin Klink, Anouck Schneider, Odile Goze-Martineau, Jean Marie Cuisset, Louis Vallee, Sylvie Manouvrier-Hanu, Dominique Gaillard, Bérengère De Martinville

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


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.
Original languageAmerican English
Pages (from-to)917-924
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
StatePublished - 1 Apr 2008
Externally publishedYes


  • Chromosomes
  • CMTlA
  • Contiguous gene syndrome
  • dup(17)(p11.2p11.2)
  • dup(17)(p11.2p12)
  • Duplication
  • Human pair 17
  • PMP22
  • Potocki-Lupski syndrome


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