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Case Reports
. 2015 Jun 25:8:42.
doi: 10.1186/s13039-015-0151-6. eCollection 2015.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

Laurent Desch  1 , Nathalie Marle  1 , Anne-Laure Mosca-Boidron  1 , Laurence Faivre  2 , Marie Eliade  1 , Muriel Payet  1 , Clemence Ragon  1 , Julien Thevenon  1 , Bernard Aral  1 , Sylviane Ragot  1 , Azarnouche Ardalan  3 , Nabila Dhouibi  4 , Candace Bensignor  5 , Christel Thauvin-Robinet  2 , Salima El Chehadeh  2 , Patrick Callier  1
Affiliations
Case Reports

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

Laurent Desch et al. Mol Cytogenet. .

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).

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.

Keywords: Complex sSMC, Array-CGH; Prader-Willi-like syndrome, 6q16.3q23.3.

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Figures

Fig. 1
Fig. 1
Phenotype of the patient at the age of 15 years. a. Note the central obesity, short stature, café-au-lait spots and facial features of Prader-Willi. b and c. Small hands and feet
Fig. 2
Fig. 2
sSMC on Karyotype RHG and GTG banding
Fig. 3
Fig. 3
Result of the array-CGH genotyping (GRCh37/hg19) of the genomic gain, originating from chromosome 6 (a) and 10 (b). a. The array-CGH showed a 30.9 Mbp gain in the 6q16.3 - q23.2 region (b). The array-CGH showed a 3.5 Mbp gain in the 10p11.21 - p11.1 region
Fig. 4
Fig. 4
The FISH result with whole painting of chromosome 6 and in red the centromere probe of chromosome 10. The complex sSMC is doubly labelled
See this image and copyright information in PMC

References

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