title: 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
abstract: BACKGROUND
  Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS).
  
  
  METHODS
  We report a 14-year-old boy with a complex small supernumerary marker chromosome (sSMC) associated with PWLS. The propositus presents clinical features commonly found in patients with PWLS, including growth hormone deficit. Banding karyotype analysis and fluorescence in situ hybridization (FISH) revealed a marker derived from chromosome 6 and a neocentromere as suspected, but array-CGH enabled us to characterize this marker as a der(10)t(6;10)(6qter → 6q23.3::10p11.1 → 10p11.21)dn. As far as we know, this is the first diagnosed case of PWLS associated with a complex sSMC, involving a 30.9 Mb gain in the 6q16.3q23.3 region and a 3.5 Mb gain in the 10p11.21p11.1 region. Several genes have been mapped to the 6q region including the TCBA1 gene, which is associated with developmental delay and recurrent infections, the ENPP1 gene, associated with insulin resistance and susceptibility to obesity and the BMIQ3 gene, associated with body mass index (BMI). No OMIM gene was found in the smallest 10p11.21p11.1 region.
  
  
  CONCLUSIONS
  We suggest that the duplicated chromosome segment 6q16.3q23.3 may be responsible for the phenotype of our case and may also be a candidate locus of PWLS.
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Desch
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Marle
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Mosca-Boidron
authors.affiliation: Centre de référence maladies rares « anomalies du développement et syndromes malformatifs » de l'Est, Centre de Génétique, CHU de Dijon, Dijon, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Eliade
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Muriel
authors.initials: M
authors.lastname: Payet
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Clemence
authors.initials: C
authors.lastname: Ragon
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Thevenon
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Bernard
authors.initials: B
authors.lastname: Aral
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Sylviane
authors.initials: S
authors.lastname: Ragot
authors.affiliation: Laboratoire Biomnis, Lyon, France.
authors.forename: Azarnouche
authors.initials: A
authors.lastname: Ardalan
authors.affiliation: Service de Pédiatrie, CH d'Auxerre, Auxerre, France.
authors.forename: Nabila
authors.initials: N
authors.lastname: Dhouibi
authors.affiliation: Service de Pédiatrie, CHU Dijon, Dijon, France.
authors.forename: Candace
authors.initials: C
authors.lastname: Bensignor
authors.affiliation: Centre de référence maladies rares « anomalies du développement et syndromes malformatifs » de l'Est, Centre de Génétique, CHU de Dijon, Dijon, France.
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.affiliation: Centre de référence maladies rares « anomalies du développement et syndromes malformatifs » de l'Est, Centre de Génétique, CHU de Dijon, Dijon, France.
authors.forename: Salima
authors.initials: S
authors.lastname: El Chehadeh
authors.affiliation: Laboratoire de Cytogénétique, Plateau Technique de Biologie, CHU de Dijon, Dijon, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Callier
keywords: Complex sSMC, Array-CGH; Prader-Willi-like syndrome, 6q16.3q23.3