Copyright © 2012 Carla Sustek D'Angelo and Celia Priszkulnik Koiffmann. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

1. World Health Organization, “Physical status: the use and interpretation of anthropometry,” Report of a WHO Expert Committee, Technical Report Series, 854, World Health Organization, Geneva, Switzerland, 1995.
2. National Institutes of Health, “Clinical guidelines on the identification, evaluation, and treatment of overweight and obesity in adults: the evidence report,” Obesity Research, vol. 6, supplement 2, pp. 51S–209S, 1998.
3. National Institutes of Health, “Erratum: clinical guidelines on the identification, evaluation, and treatment of overweight and obesity in adults: the evidence report,” Obesity Research, vol. 6, no. 6, article 464, 1998.
4. B. Swinburn, G. Egger, and F. Raza, “Dissecting obesogenic environments: the development and application of a framework for identifying and prioritizing environmental interventions for obesity,” Preventive Medicine, vol. 29, no. 6, pp. 563–570, 1999. View at Publisher · View at Google Scholar · View at Scopus
5. A. J. Stunkard, T. T. Foch, and Z. Hrubec, “A twin study of human obesity,” Journal of the American Medical Association, vol. 256, no. 1, pp. 51–54, 1986. View at Scopus
6. H. H. M. Maes, M. C. Neale, and L. J. Eaves, “Genetic and environmental factors in relative body weight and human adiposity,” Behavior Genetics, vol. 27, no. 4, pp. 325–351, 1997. View at Publisher · View at Google Scholar · View at Scopus
7. S. A. Ranadive and C. Vaisse, “Lessons from extreme human obesity: monogenic disorders,” Endocrinology and Metabolism Clinics of North America, vol. 37, no. 3, pp. 733–751, 2008. View at Publisher · View at Google Scholar · View at Scopus
8. A. Goldstone and P. Beales, “Genetic obesity syndromes,” Frontiers of Hormone Research, vol. 36, pp. 37–60, 2007. View at Publisher · View at Google Scholar · View at Scopus
9. P. R. Beales, I. S. Farooqi, and S. O’Rahilly, Genetics of Obesity Syndromes, Oxford University Press, New York, NY, USA, 2009.
10. E. Kousta, C. G. Hadjiathanasiou, G. Tolis, and A. Papathanasiou, “Pleiotropic genetic syndromes with developmental abnormalities associated with obesity,” Journal of Pediatric Endocrinology and Metabolism, vol. 22, no. 7, pp. 581–592, 2009. View at Scopus
11. J. V. Neel, “Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?” American Journal of Human Genetics, vol. 14, pp. 353–362, 1962. View at Scopus
12. C. G. Bell, A. J. Walley, and P. Froguel, “The genetics of human obesity,” Nature Reviews Genetics, vol. 6, no. 3, pp. 221–234, 2005. View at Publisher · View at Google Scholar · View at Scopus
13. A. J. Walley, J. E. Asher, and P. Froguel, “The genetic contribution to non-syndromic human obesity,” Nature Reviews Genetics, vol. 10, no. 7, pp. 431–442, 2009. View at Publisher · View at Google Scholar · View at Scopus
14. S. Ramachandrappa and I. S. Farooqi, “Genetic approaches to understanding human obesity,” Journal of Clinical Investigation, vol. 121, no. 6, pp. 2080–2086, 2011. View at Publisher · View at Google Scholar · View at Scopus
15. L. A. Hindorff, P. Sethupathy, H. A. Junkins et al., “Potential etiologic and functional implications of genome-wide association loci for human diseases and traits,” Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 23, pp. 9362–9367, 2009. View at Publisher · View at Google Scholar · View at Scopus
16. F. R. Day and R. J. F. Loss, “Developments in obesity genetics in the era of genome-wide association studies,” Journal of Nutrigenetics and Nutrigenomics, vol. 4, pp. 222–238, 2011. View at Publisher · View at Google Scholar
17. E. K. Speliotes, C. J. Willer, S. I. Berndt, et al., “Association analyses of 249, 796 individuals reveal 18 new loci associated with body mass index,” Nature Genetics, vol. 42, pp. 937–948, 2010. View at Publisher · View at Google Scholar
18. H. Choquet and D. Meyre, “Molecular basis of obesity: current status and future prospects,” Current Genomics, vol. 12, no. 3, pp. 154–168, 2011. View at Scopus
19. W. W. Cheung and P. Mao, “Recent advances in obesity: genetics and beyond,” ISRN Endocrinology, vol. 2012, Article ID 536905, 2012. View at Publisher · View at Google Scholar
20. Y. C. L. Tung and G. S. H. Yeo, “From GWAS to biology: lessons from FTO,” Annals of the New York Academy of Sciences, vol. 1220, no. 1, pp. 162–171, 2011. View at Publisher · View at Google Scholar · View at Scopus
21. P. M. Schmid, I. Heid, C. Buechler, et al., “Expression of fourteen novel obesity-related genes in zucker diabetic fatty rats,” Cardiovascular Diabetology, vol. 11, article 48, 2012.
22. S. P. Dickson, K. Wang, I. Krantz, H. Hakonarson, and D. B. Goldstein, “Rare variants create synthetic genome-wide associations,” PLoS Biology, vol. 8, no. 1, Article ID e1000294, 2010. View at Publisher · View at Google Scholar · View at Scopus
23. C. A. Anderson, N. Soranzo, E. Zeggini, and J. C. Barrett, “Synthetic associations are unlikely to account for many common disease genome-wide association signals,” PLoS Biology, vol. 9, no. 1, Article ID e1000580, 2011. View at Publisher · View at Google Scholar · View at Scopus
24. A. Scherag, I. Jarick, J. Grothe et al., “Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus,” PLoS ONE, vol. 5, no. 11, Article ID e13967, 2010. View at Publisher · View at Google Scholar · View at Scopus
25. T. A. Manolio, F. S. Collins, N. J. Cox et al., “Finding the missing heritability of complex diseases,” Nature, vol. 461, no. 7265, pp. 747–753, 2009. View at Publisher · View at Google Scholar · View at Scopus
26. E. T. Cirulli and D. B. Goldstein, “Uncovering the roles of rare variants in common disease through whole-genome sequencing,” Nature Reviews Genetics, vol. 11, no. 6, pp. 415–425, 2010. View at Publisher · View at Google Scholar · View at Scopus
27. J. Yang, T. A. Manolio, L. R. Pasquale et al., “Genome partitioning of genetic variation for complex traits using common SNPs,” Nature Genetics, vol. 43, no. 6, pp. 519–525, 2011. View at Publisher · View at Google Scholar · View at Scopus
28. A. J. Iafrate, L. Feuk, M. N. Rivera et al., “Detection of large-scale variation in the human genome,” Nature Genetics, vol. 36, no. 9, pp. 949–951, 2004. View at Publisher · View at Google Scholar · View at Scopus
29. J. Sebat, B. Lakshmi, J. Troge et al., “Large-scale copy number polymorphism in the human genome,” Science, vol. 305, no. 5683, pp. 525–528, 2004. View at Publisher · View at Google Scholar · View at Scopus
30. R. Redon, S. Ishikawa, K. R. Fitch et al., “Global variation in copy number in the human genome,” Nature, vol. 444, no. 7118, pp. 444–454, 2006. View at Publisher · View at Google Scholar · View at Scopus
31. P. Stankiewicz and J. R. Lupski, “Structural variation in the human genome and its role in disease,” Annual Review of Medicine, vol. 61, pp. 437–455, 2010. View at Publisher · View at Google Scholar · View at Scopus
32. J. R. Lupski, “Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits,” Trends in Genetics, vol. 14, no. 10, pp. 417–422, 1998. View at Publisher · View at Google Scholar · View at Scopus
33. J. R. Lupski, “Genomic disorders ten years on,” Genome Medicine, vol. 1, no. 4, article 42, 2009. View at Publisher · View at Google Scholar · View at Scopus
34. D. F. Conrad, C. Bird, B. Blackburne et al., “Mutation spectrum revealed by breakpoint sequencing of human germline CNVs,” Nature Genetics, vol. 42, no. 5, pp. 385–391, 2010. View at Publisher · View at Google Scholar · View at Scopus
35. S. A. McCarroll, F. G. Kuruvilla, J. M. Korn et al., “Integrated detection and population-genetic analysis of SNPs and copy number variation,” Nature Genetics, vol. 40, no. 10, pp. 1166–1174, 2008. View at Publisher · View at Google Scholar · View at Scopus
36. N. Craddock, M. E. Hurles, N. Cardin, et al., “Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls,” Nature, vol. 464, pp. 713–720, 2010. View at Publisher · View at Google Scholar
37. L. A. Hindorff, P. Sethupathy, H. A. Junkins et al., “Potential etiologic and functional implications of genome-wide association loci for human diseases and traits,” Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 23, pp. 9362–9367, 2009. View at Publisher · View at Google Scholar · View at Scopus
38. The ENCODE Project Consortium, “An integrated encyclopedia of DNA elements in the human genome,” Nature, vol. 489, pp. 57–74, 2012. View at Publisher · View at Google Scholar
39. C. J. Willer, E. K. Speliotes, R. J. Loos, et al., “Six new loci associated with body mass index highlight a neuronal influence on body weight regulation,” Nature Genetics, vol. 41, pp. 25–34, 2009. View at Publisher · View at Google Scholar
40. B. Y. Sha, T. L. Yang, L. J. Zhao et al., “Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population,” Journal of Human Genetics, vol. 54, no. 4, pp. 199–202, 2009. View at Publisher · View at Google Scholar · View at Scopus
41. I. Jarick, C. I. Vogel, S. Scherag et al., “Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis,” Human Molecular Genetics, vol. 20, no. 4, Article ID ddq518, pp. 840–852, 2011. View at Publisher · View at Google Scholar · View at Scopus
42. G. Gibson, “Rare and common variants: twenty arguments,” Nature Reviews Genetics, vol. 13, pp. 135–145, 2011.
43. E. G. Bochukova, N. Huang, J. Keogh et al., “Large, rare chromosomal deletions associated with severe early-onset obesity,” Nature, vol. 463, no. 7281, pp. 666–670, 2010. View at Publisher · View at Google Scholar · View at Scopus
44. R. G. Walters, S. Jacquemont, A. Valsesia, et al., “A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2,” Nature, vol. 463, pp. 671–675, 2010. View at Publisher · View at Google Scholar
45. K. Wang, W. D. Li, J. T. Glessner, S. F. A. Grant, H. Hakonarson, and R. A. Price, “Large copy-number variations are enriched in cases with moderate to extreme obesity,” Diabetes, vol. 59, no. 10, pp. 2690–2694, 2010. View at Publisher · View at Google Scholar · View at Scopus
46. J. T. Glessner, J. P. Bradfield, K. Wang et al., “A genome-wide study reveals copy number variants exclusive to childhood obesity cases,” American Journal of Human Genetics, vol. 87, no. 5, pp. 661–666, 2010. View at Publisher · View at Google Scholar · View at Scopus
47. D. Zhang, Y. Qian, N. Akula et al., “Accuracy of CNV detection from GWAS data,” PLoS ONE, vol. 6, no. 1, Article ID e14511, 2011. View at Publisher · View at Google Scholar · View at Scopus
48. N. E. Wineinger and H. K. Tiwari, “The impact of errors in copy number variation detection algorithms on association results,” PLoS ONE, vol. 7, no. 4, Article ID e32396, 2012.
49. S. Girirajan, J. A. Rosenfeld, G. M. Cooper, et al., “A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay,” Nature Genetics, vol. 42, pp. 203–209, 2010. View at Publisher · View at Google Scholar
50. S. Girirajan and E. E. Eichler, “Phenotypic variability and genetic susceptibility to genomic disorders,” Human Molecular Genetics, vol. 19, no. 2, pp. R176–R187, 2010. View at Scopus
51. J. A. Veltman and H. G. Brunner, “Understanding variable expressivity in microdeletion syndromes,” Nature Genetics, vol. 42, no. 3, pp. 192–193, 2010. View at Publisher · View at Google Scholar · View at Scopus
52. E. B. Kaminsky, V. Kaul, J. Paschall, et al., “An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities,” Genetics in Medicine, vol. 13, pp. 777–784, 2011. View at Publisher · View at Google Scholar
53. G. M. Cooper, B. P. Coe, S. Girirajan, et al., “A copy number variation morbidity map of developmental delay,” Genetics in Medicine, vol. 43, pp. 838–846, 2011.
54. R. Bachmann-Gagescu, H. C. Mefford, C. Cowan et al., “Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity,” Genetics in Medicine, vol. 12, no. 10, pp. 641–647, 2010. View at Publisher · View at Google Scholar · View at Scopus
55. D. T. ller, R. Nasir, M. M. Sobeih, Y. Shen, B. L. Wu, and E. Hanson, “16p11.2 microdeletion,” in GeneReviews, R. A. Pagon, T. D. Bird, C. R. Dolan, K. Stephens, and M. P. Adam, Eds., University of Washington, Seattle, Wash, USA, 2009.
56. S. Jacquemont, A. Reymond, F. Zufferey, et al., “Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus,” Nature, vol. 478, pp. 97–102, 2011. View at Publisher · View at Google Scholar
57. D. Ren, M. Li, C. Duan, and L. Rui, “Identification of SH2-B as a key regulator of leptin sensitivity, energy balance, and body weight in mice,” Cell Metabolism, vol. 2, no. 2, pp. 95–104, 2005. View at Publisher · View at Google Scholar · View at Scopus
58. M. Shinawi, P. Liu, S. H. L. Kang et al., “Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size,” Journal of Medical Genetics, vol. 47, no. 5, pp. 332–341, 2010. View at Publisher · View at Google Scholar · View at Scopus
59. H. Choquet and D. Meyre, “Genomic insights into early-onset obesity,” Genome Medicine, vol. 2, no. 6, article 36, 2010. View at Publisher · View at Google Scholar · View at Scopus
60. M. G. Logan and M. S. Pepper, “The genetics of obesity: the role of the melanocortin 4 receptor,” Journal of Endocrinology, Metabolism and Diabetes of South Africa, vol. 15, no. 1, pp. 45–47, 2010. View at Scopus
61. J. L. Holder Jr., N. F. Butte, and A. R. Zinn, “Profound obesity associated with a balanced translocation that disrupts the SIM1 gene,” Human Molecular Genetics, vol. 9, no. 1, pp. 101–108, 2000. View at Scopus
62. M. C. Bonaglia, R. Ciccone, G. Gimelli et al., “Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype,” European Journal of Human Genetics, vol. 16, no. 12, pp. 1443–1449, 2008. View at Publisher · View at Google Scholar · View at Scopus
63. J. Gray, G. S. H. Yeo, J. J. Cox et al., “Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene,” Diabetes, vol. 55, no. 12, pp. 3366–3371, 2006. View at Publisher · View at Google Scholar · View at Scopus
64. J. C. Han, Q. R. Liu, M. Jones, et al., “Brain-derived neurotrophic factor and obesity in the WAGR syndrome,” The New England Journal of Medicine, vol. 359, pp. 918–927, 2008. View at Publisher · View at Google Scholar
65. G. S. H. Yeo, C. C. C. Hung, J. Rochford et al., “A de novo mutation affecting human TrkB associated with severe obesity and developmental delay,” Nature Neuroscience, vol. 7, no. 11, pp. 1187–1189, 2004. View at Publisher · View at Google Scholar · View at Scopus
66. T. Rankinen, A. Zuberi, Y. C. Chagnon et al., “The human obesity gene map: the 2005 update,” Obesity, vol. 14, no. 4, pp. 529–644, 2006. View at Publisher · View at Google Scholar · View at Scopus
67. S. B. Cassidy and D. J. Driscoll, “Prader-Willi syndrome,” European Journal of Human Genetics, vol. 17, no. 1, pp. 3–13, 2009. View at Publisher · View at Google Scholar · View at Scopus
68. B. M. Herrera, S. Keildson, and C. M. Lindgren, “Genetics and epigenetics of obesity,” Maturitas, vol. 69, no. 1, pp. 41–49, 2011. View at Publisher · View at Google Scholar · View at Scopus
69. T. Sahoo, D. Del Gaudio, J. R. German et al., “Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster,” Nature Genetics, vol. 40, no. 6, pp. 719–721, 2008. View at Publisher · View at Google Scholar · View at Scopus
70. A. J. de Smith, C. Purmann, R. G. Walters et al., “A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism,” Human Molecular Genetics, vol. 18, no. 17, pp. 3257–3265, 2009. View at Publisher · View at Google Scholar · View at Scopus
71. A. L. Duker, B. C. Ballif, E. V. Bawle et al., “Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome,” European Journal of Human Genetics, vol. 18, no. 11, pp. 1196–1201, 2010. View at Publisher · View at Google Scholar · View at Scopus
72. D. Kanber, J. Giltay, D. Wieczorek et al., “A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome,” European Journal of Human Genetics, vol. 17, no. 5, pp. 582–590, 2009. View at Publisher · View at Google Scholar · View at Scopus
73. Y. Chen, Y. J. Liu, Y. F. Pei et al., “Copy number variations at the prader-Willi syndrome region on chromosome 15 and associations with obesity in whites,” Obesity, vol. 19, no. 6, pp. 1229–1234, 2011. View at Publisher · View at Google Scholar · View at Scopus
74. Y.-C. Hsiao, K. Tuz, and R. J. Ferland, “Trafficking in and to the primary cilium,” Cilia, vol. 1, article 4, 2012.
75. D. F. Guo and K. Rahmouni, “Molecular basis of the obesity associated with Bardet-Biedl syndrome,” Trends in Endocrinology and Metabolism, vol. 22, no. 7, pp. 286–293, 2011. View at Publisher · View at Google Scholar · View at Scopus
76. M. Benzinou, A. Walley, S. Lobbens et al., “Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians,” Diabetes, vol. 55, no. 10, pp. 2876–2882, 2006. View at Publisher · View at Google Scholar · View at Scopus
77. P. L. Beales, “Lifting the lid on Pandora's box: the Bardet-Biedl syndrome,” Current Opinion in Genetics and Development, vol. 15, no. 3, pp. 315–323, 2005. View at Publisher · View at Google Scholar · View at Scopus
78. J. D. Marshall, P. Maffei, G. B. Collin, and J. K. Naggert, “Alström syndrome: genetics and clinical overview,” Current Genomics, vol. 12, no. 3, pp. 225–235, 2011. View at Scopus
79. D. Girard and N. Petrovsky, “Alström syndrome: insights into the pathogenesis of metabolic disorders,” Nature Reviews Endocrinology, vol. 7, no. 2, pp. 77–88, 2011. View at Publisher · View at Google Scholar · View at Scopus
80. D. Jenkins, D. Seelow, F. S. Jehee, et al., “RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity,” American Journal of Human Genetics, vol. 80, pp. 1162–1170, 2007. View at Publisher · View at Google Scholar
81. F. Simpson, M. C. Kerr, and C. Wicking, “Trafficking, development and hedgehog,” Mechanisms of Development, vol. 126, no. 5-6, pp. 279–288, 2009. View at Publisher · View at Google Scholar · View at Scopus
82. W. Seifert, J. Kühnisch, T. Maritzen, D. Horn, V. Haucke, and H. C. Hennies, “Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity,” The Journal of Biological Chemistry, vol. 286, pp. 37665–37675, 2011. View at Publisher · View at Google Scholar
83. B. Budny, M. Badura-Stronka, A. Materna-Kiryluk et al., “Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome,” Clinical Genetics, vol. 77, no. 6, pp. 541–551, 2010. View at Publisher · View at Google Scholar · View at Scopus
84. P. S. Tarpey, F. L. Raymond, S. O'Meara et al., “Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor,” American Journal of Human Genetics, vol. 80, no. 2, pp. 345–352, 2007. View at Publisher · View at Google Scholar · View at Scopus
85. S. R. Williams, M. A. Aldred, V. M. Der Kaloustian et al., “Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems,” American Journal of Human Genetics, vol. 87, no. 2, pp. 219–228, 2010. View at Publisher · View at Google Scholar · View at Scopus
86. T. Kleefstra, M. Smidt, M. J. G. Banning et al., “Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome,” Journal of Medical Genetics, vol. 42, no. 4, pp. 299–306, 2005. View at Publisher · View at Google Scholar · View at Scopus
87. T. Kleefstra, W. A. Van Zelst-Stams, W. M. Nillesen et al., “Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype,” Journal of Medical Genetics, vol. 46, no. 9, pp. 598–606, 2009. View at Publisher · View at Google Scholar · View at Scopus
88. R. E. Slager, T. L. Newton, C. N. Vlangos, B. Finucane, and S. H. Elsea, “Mutations in RAI1 associated with Smith-Magenis syndrome,” Nature Genetics, vol. 33, no. 4, pp. 466–468, 2003. View at Publisher · View at Google Scholar · View at Scopus
89. E. A. Edelman, S. Girirajan, B. Finucane et al., “Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases,” Clinical Genetics, vol. 71, no. 6, pp. 540–550, 2007. View at Publisher · View at Google Scholar · View at Scopus
90. S. Girirajan, H. T. Truong, C. L. Blanchard, and S. H. Elsea, “A functional network module for Smith-Magenis syndrome,” Clinical Genetics, vol. 75, no. 4, pp. 364–374, 2009. View at Publisher · View at Google Scholar · View at Scopus
91. J. C. Han, M. J. Muehlbauer, H. N. Cui, C. B. Newgard, and A. M. Haqq, “Lower brain-derived neurotrophic factor in patients with Prader-Willi syndrome compared to obese and lean control subjects,” Journal of Clinical Endocrinology and Metabolism, vol. 95, no. 7, pp. 3532–3536, 2010. View at Publisher · View at Google Scholar · View at Scopus
92. B. Burns, K. Schmidt, S. R. Williams, S. Kim, S. Girirajan, and S. H. Elsea, “Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome,” Human Molecular Genetics, vol. 19, no. 20, Article ID ddq317, pp. 4026–4042, 2010. View at Publisher · View at Google Scholar · View at Scopus
93. R. E. Falk and K. A. Casas, “Chromosome 2q37 deletion: clinical and molecular aspects,” American Journal of Medical Genetics, Part C, vol. 145, no. 4, pp. 357–371, 2007. View at Publisher · View at Google Scholar · View at Scopus
94. S. K. Shapira, C. McCaskill, H. Northrup et al., “Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome,” American Journal of Human Genetics, vol. 61, no. 3, pp. 642–650, 1997. View at Scopus
95. A. Battaglia, H. E. Hoyme, B. Dallapiccola, et al., “Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation,” Pediatrics, vol. 121, pp. 404–410, 2008. View at Publisher · View at Google Scholar
96. C. S. D'Angelo, I. Kohl, M. C. Varela et al., “Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia,” American Journal of Medical Genetics, Part A, vol. 152, no. 1, pp. 102–110, 2010. View at Publisher · View at Google Scholar · View at Scopus
97. J. A. Rosenfeld, J. A. Crolla, S. Tomkins et al., “Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions,” American Journal of Medical Genetics, Part A, vol. 152, no. 8, pp. 1951–1959, 2010. View at Publisher · View at Google Scholar · View at Scopus
98. J. A. Rosenfeld, D. Amrom, E. Andermann, et al., “Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases,” Neurogenetics, vol. 13, no. 1, pp. 31–47, 2012. View at Publisher · View at Google Scholar
99. D. R. Stewart and T. Kleefstra, “The chromosome 9q subtelomere deletion syndrome,” American Journal of Medical Genetics, Part C, vol. 145, no. 4, pp. 383–392, 2007. View at Publisher · View at Google Scholar · View at Scopus
100. V. Cormier-Daire, F. Molinari, M. Rio et al., “Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?” Journal of Medical Genetics, vol. 40, no. 4, pp. 300–303, 2003. View at Scopus
101. T. Kleefstra, J. M. Kramer, K. Neveling, et al., “Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability,” The American Journal of Human Genetics, vol. 91, no. 1, pp. 73–82, 2011.
102. M. H. Willemsen, A. Vallès, L. A. Kirkels, et al., “Chromosome 1p21. 3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability,” Journal of Medical Genetics, vol. 48, pp. 810–818, 2011. View at Publisher · View at Google Scholar
103. S. J. C. Stevens, C. M. A. van Ravenswaaij-Arts, J. W. H. Janssen, et al., “MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions,” American Journal of Medical Genetics Part A, vol. 155, pp. 2739–2745, 2011. View at Publisher · View at Google Scholar
104. C. Wentzel, S. A. Lynch, E. L. Stattin, F. H. Sharkey, G. Annerén, and A. C. Thuresson, “Interstitial deletions at 6q14.1-q15 associated with obesity, developmental delay and a distinct clinical phenotype,” Molecular Syndromology, vol. 1, no. 2, pp. 75–81, 2010. View at Publisher · View at Google Scholar · View at Scopus
105. M. Shinawi, T. Sahoo, B. Maranda et al., “11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity,” American Journal of Medical Genetics, Part A, vol. 155, no. 6, pp. 1272–1280, 2011. View at Publisher · View at Google Scholar · View at Scopus
106. J. Davidsson, K. Jahnke, M. Forsgren, A. Collin, and M. Soller, “Dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome,” Obesity, vol. 18, no. 3, pp. 580–587, 2010. View at Publisher · View at Google Scholar · View at Scopus
107. M. J. Dasouki, E. L. Youngs, and K. Hovanes, “Structural chromosome abnormalities associated with obesity: report of four new subjects and review of literature,” Current Genomics, vol. 12, no. 3, pp. 190–203, 2011. View at Scopus
108. D. T. Miller, M. P. Adam, S. Aradhya et al., “Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies,” American Journal of Human Genetics, vol. 86, no. 5, pp. 749–764, 2010. View at Publisher · View at Google Scholar · View at Scopus
109. H. M. Kearney, E. C. Thorland, K. K. Brown, F. Quintero-Rivera, and S. T. South, “American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants,” Genetics in Medicine, vol. 13, no. 7, pp. 680–685, 2011. View at Publisher · View at Google Scholar · View at Scopus
110. V. Vauthier, S. Jaillard, H. Journel, C. Dubourg, R. Jockers, and J. Dam, “Homozygous deletion of a 80 kb region comprising the dnaj6c gene and part of the lepr gene on chromosome 1p31.3 is associated with early onset obesity, mental retardation and epilepsy,” Molecular Genetics and Metabolism, vol. 106, no. 3, pp. 345–350, 2012. View at Publisher · View at Google Scholar
111. N. Rivera-Brugués, B. Albrecht, D. Wieczorek et al., “Cohen syndrome diagnosis using whole genome arrays,” Journal of Medical Genetics, vol. 48, no. 2, pp. 136–140, 2011. View at Publisher · View at Google Scholar · View at Scopus
112. C. Redin, S. Le Gras, O. Mhamdi, et al., “Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes,” Journal of Medical Genetics, vol. 49, no. 8, pp. 502–512, 2012. View at Publisher · View at Google Scholar