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

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Desch, Laurent ^a   Marle, Nathalie ^a   Mosca Boidron, Anne Laure ^a   Faivre, Laurence ^a   Eliade, Marie ^a   Payet, Muriel ^a   Ragon, Clemence ^a   Thevenon, Julien ^a   Aral, Bernard ^a   Ragot, Sylviane ^a   Ardalan, Azarnouche ^b   Dhouibi, Nabila ^c   Bensignor, Candace ^a   Thauvin Robinet, Christel ^a   El Chehadeh, Salima ^a   Callier, Patrick ^a  

^a DIJON UNIVERSITY HOSPITAL   (France)

^b Laboratoire Biomnis   (France)

^c Service de Pédiatrie   (France)

Author keywords

6q16.3q23.3; Array CGH; Complex sSMC; Prader Willi like syndrome

Indexed keywords

SOMATOMEDIN C;

ADOLESCENT; ARTICLE; BIOASSAY; BODY MASS; CASE REPORT; CHROMOSOME 6; CHROMOSOME 6Q16.3Q23.3 DUPLICATION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE PREDISPOSITION; ENPP1 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE LOCUS; GENETIC ASSOCIATION; GROWTH HORMONE DEFICIENCY; HUMAN; INSULIN RESISTANCE; KARYOTYPE; LEAD POISONING; MALE; OBESITY; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SHORT STATURE; SMALL SUPERNUMERARY MARKER CHROMOSOME; SUPERNUMERARY CHROMOSOME; TCBA1 GENE;

EID: 84933501142     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0151-6     Document Type: Article

References (30)

1. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14(1):10-26.
2. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res. 2004;107(1-2):55-67.
3. Liehr T, Cirkovic S, Lalic T, Guc-Scekic M, de Almeida C, Weimer J, et al. Complex small supernumerary marker chromosomes - an update. Mol Cytogenet. 2013;6(1):46.
4. Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrzak J, et al. Neocentric small supernumerary marker chromosomes (sSMC)-three more cases and review of the literature. Cytogenet Genome Res. 2007;118(1):31-7.
5. Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med. 2007;19(5):719-31.
6. Rocha CF, Paiva CLA. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities. Genet Mol Res. 2014;13(1):2290-8.
7. Vuillaume ML, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, et al. New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity. Am J Med Genet A. 2014;164A(8):1965-75.
8. WHO Multicentre Growth Reference Study Group. WHO Child Growth Standards: length/height-for-age, weight-for-age, weight-for-length, weight-for-height and body mass index-for-age: methods and development. Genève: Organisation mondiale de la Santé; 2006. p. 312.
9. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet. 2009;17(1):3-13.
10. Verma RS, Babu A. Human chromosomes - Manual of basic technologies. 4th ed. New York: Perga-mon Press; 1998. p. 6-71.
11. Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, et al. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. Clin Genet. 2014;85(3):233-44.
12. Liehr T. Small supernumerary marker chromosomes. 2015. http://ssmc-tl.com/sSMC.html [accessed 18/05/2015].
13. DECIPHER. http://decipher.sanger.ac.uk.
14. Huang B, Pearle P, Rauen KA, Cotter PD. Supernumerary marker chromosomes derived from chromosome 6: cytogenetic, molecular cytogenetic, and array CGH characterization. Am J Med Genet A. 2012;158A(7):1568-73.
15. Zneimer SM, Ziel B, Bachman R. Partial trisomy of chromosome 6q: an interstitial duplication of the long arm. Am J Med Genet. 1998;80(2):133-5.
16. Pratt VM, Roberson JR, Weiss L, Van Dyke DL. Duplication 6q21q23 in two unrelated patients. Am J Med Genet. 1998;80(2):112-4.
17. Pazooki M, Lebbar A, Roubergues A, Baverel F, Letessier D, Dupont JM. Pure familial 6q21q22.1 duplication in two generations. Eur J Med Genet. 2007;50(1):60-5.
18. Smith A, Jauch A, Slater H, Robson L, Sandanam T. Syndromal obesity due to paternal duplication 6(q24.3-q27). Am J Med Genet. 1999;84(2):125-31.
19. D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, et al. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. Am J Med Genet A. 2013;161A(3):479-86.
20. Sala E, Crosti F, Villa N, Oldrini A, Lalatta F, Gandolfi P, et al. First report of a supernumerary marker chromosome 6. Chromosome Res. 2005;13 suppl. 1:131. 7.26-P.
21. Qin N, Bartley J, Wang JC, Warburton PE. A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6. Cytogenet Genome Res. 2007;119(1-2):154-7.
22. Jackson MS, Rocchi M, Thompson G, Hearn T, Crosier M, Guy J, et al. Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations. Hum Mol Genet. 1999;8(2):205-15.
23. OMIM geneMap. http://www.omim.org/search/advanced/geneMap.
24. Bocciardi R, Giorda R, Marigo V, Zordan P, Montanaro D, Gimelli S, et al. Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. Hum Mutat. 2005;26(5):426-36.
25. Yue Y, Stout K, Grossmann B, Zechner U, Brinckmann A, White C, et al. Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections. J Med Genet. 2006;43(2):143-7.
26. Atwood LD, Heard-Costa NL, Cupples LA, Jaquish CE, Wilson PWF, D'Agostino RB. Genomewide linkage analysis of body mass index across 28 years of the Framingham heart study. Am J Hum Genet. 2002;71(5):1044-50.
27. Pizzuti A, Frittitta L, Argiolas A, Baratta R, Goldfine ID, Bozzali M, et al. A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance. Diabetes. 1999;48(9):1881-4.
28. Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, et al. Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features. Am J Med Genet A. 2013;161(12):3137-43.
29. Villa A, Urioste M, Bofarull JM, Martínez-Frías ML. De novo interstitial deletion q16.2q21 on chromosome 6. Am J Med Genet. 1995;55(3):379-83.
30. Khattabi LE, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, et al. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. Eur J Hum Genet EJHG. 2014. doi: 10.1038/ejhg.2014.230.