PMID- 26110021
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150625
LR  - 20240323
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 8
DP  - 2015
TI  - 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
PG  - 42
LID - 10.1186/s13039-015-0151-6 [doi]
LID - 42
AB  - 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). CASE PRESENTATION: 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.
FAU - Desch, Laurent
AU  - Desch L
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
FAU - Marle, Nathalie
AU  - Marle N
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
FAU - Mosca-Boidron, Anne-Laure
AU  - Mosca-Boidron AL
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
FAU - Faivre, Laurence
AU  - Faivre L
AD  - Centre de reference maladies rares << anomalies du developpement et syndromes 
      malformatifs >> de l'Est, Centre de Genetique, CHU de Dijon, Dijon, France.
FAU - Eliade, Marie
AU  - Eliade M
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
FAU - Payet, Muriel
AU  - Payet M
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
FAU - Ragon, Clemence
AU  - Ragon C
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
FAU - Thevenon, Julien
AU  - Thevenon J
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
FAU - Aral, Bernard
AU  - Aral B
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
FAU - Ragot, Sylviane
AU  - Ragot S
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
FAU - Ardalan, Azarnouche
AU  - Ardalan A
AD  - Laboratoire Biomnis, Lyon, France.
FAU - Dhouibi, Nabila
AU  - Dhouibi N
AD  - Service de Pediatrie, CH d'Auxerre, Auxerre, France.
FAU - Bensignor, Candace
AU  - Bensignor C
AD  - Service de Pediatrie, CHU Dijon, Dijon, France.
FAU - Thauvin-Robinet, Christel
AU  - Thauvin-Robinet C
AD  - Centre de reference maladies rares << anomalies du developpement et syndromes 
      malformatifs >> de l'Est, Centre de Genetique, CHU de Dijon, Dijon, France.
FAU - El Chehadeh, Salima
AU  - El Chehadeh S
AD  - Centre de reference maladies rares << anomalies du developpement et syndromes 
      malformatifs >> de l'Est, Centre de Genetique, CHU de Dijon, Dijon, France.
FAU - Callier, Patrick
AU  - Callier P
AD  - Laboratoire de Cytogenetique, Plateau Technique de Biologie, CHU de Dijon, Dijon, 
      France.
LA  - eng
PT  - Case Reports
DEP - 20150625
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4479069
OTO - NOTNLM
OT  - Complex sSMC, Array-CGH
OT  - Prader-Willi-like syndrome, 6q16.3q23.3
EDAT- 2015/06/26 06:00
MHDA- 2015/06/26 06:01
PMCR- 2015/06/25
CRDT- 2015/06/26 06:00
PHST- 2015/04/24 00:00 [received]
PHST- 2015/06/10 00:00 [accepted]
PHST- 2015/06/26 06:00 [entrez]
PHST- 2015/06/26 06:00 [pubmed]
PHST- 2015/06/26 06:01 [medline]
PHST- 2015/06/25 00:00 [pmc-release]
AID - 151 [pii]
AID - 10.1186/s13039-015-0151-6 [doi]
PST - epublish
SO  - Mol Cytogenet. 2015 Jun 25;8:42. doi: 10.1186/s13039-015-0151-6. eCollection 
      2015.