References
Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet. 2014 Oct;51(10):635-45. doi: 10.1136/jmedgenet-2014-102476.
Corsello G, Antona V, Serra G, Zara F, Giambrone C, Lagalla L, Piccione M, Piro E. Clinical and molecular characterization of 112 single-center patientswith Neurofibromatosis type 1. Ital J Pediatr. 2018;44(1):45. doi: 10.1186/s13052-018-0483-z.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395.
Guivarch J, Chatel C, Mortreux J, Missirian C, Philip N, Poinso F. An atypical autistic phenotype associated with a 2q13 microdeletion: a case report. J Med Case Rep. 2018 Mar 18;12(1):79. doi: 10.1186/s13256-018-1620-4.
Hladilkova E, Barøy T, Fannemel M, Vallova V, Misceo D, Bryn V, Slamova I, Prasilova S, Kuglik P, Frengen E. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Mol Cytogenet. 2015 Jul 31;8:57. doi: 10.1186/s13039-015-0157-0.
Iyer J, Girirajan S. Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders. Brief Funct Genomics. 2015 Sep;14(5):315-28. doi: 10.1093/bfgp/elv018.
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey. Clin Genet. 2016 May;89(5):630-5. doi: 10.1111/cge.12696.
Passos-Bueno MR, Ornelas CC, Fanganiello RD. Syndromes of the first and second pharyngeal arches: A review. Am J Med Genet A. 2009 Aug;149A(8):1853-9. doi: 10.1002/ajmg.a.32950.
Pavone P, Corsello G, Marino SD, Ruggieri M, Falsaperla R. 7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review. Epilepsy Res. 2019 Dec;158:106223. doi: 10.1016/j.eplepsyres.2019.106223.
Pavone P, Marino SD, Corsello G, Ruggieri M, Chiodo DC, Marino S, Falsaperla R. Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome-Literature Review. J Pediatr Genet. 2019 Dec;8(4):205-211. doi: 10.1055/s-0039-1694015.
Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. Am J Med Genet A. 2015 Nov;167A(11):2664-73. doi: 10.1002/ajmg.a.37269.
Rudd MK, Keene J, Bunke B, Kaminsky EB, Adam MP, Mulle JG, Ledbetter DH, Martin CL. Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet. 2009 Aug 15;18(16):2957-62. doi: 10.1093/hmg/ddp233.
Russell MW, Raeker MO, Geisler SB, Thomas PE, Simmons TA, Bernat JA, Thorsson T, Innis JW. Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. Hum Mol Genet. 2014 Aug 15;23(16):4272-84. doi: 10.1093/hmg/ddu144.
Serra G, Antona V, Corsello G, Zara F, Piro E, Falsaperla R. NF1 microdeletion syndrome: case report of two new patients. Ital J Pediatr. 2019 Nov 8;45(1):138. doi: 10.1186/s13052-019-0718-7.
Sheikh AM, Li X, Wen G, Tauqeer Z, Brown WT, Malik M. Cathepsin D and apoptosis related proteins are elevated in the brain of autistic subjects. Neuroscience. 2010 Jan 20;165(2):363-70. doi: 10.1016/j.neuroscience.2009.10.035.
Viaggi CD, Cavani S, Pierluigi M, Antona V, Piro E, Corsello G, Mogni M, Piccione M, Malacarne M. Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH. J Appl Genet. 2012;53(3):285–8. doi: 10.1007/s13353-012-0097-x.
Wolfe K, McQuillin A, Alesi V, BoudryLabis E, Cutajar P, Dallapiccola B, Dentici ML, Dieux-Coeslier A, Duban-Bedu B, DuelundHjortshøj T, Goel H, Loddo S, Morrogh D, Mosca-Boidron AL, Novelli A, Olivier-Faivre L, Parker J, Parker MJ, Patch C, Pelling AL, Smol T, Tümer Z, VanakkerO, van Haeringen A, Vanlerberghe C, Strydom A, Skuse D, Bass N. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):397-405. doi: 10.1002/ajmg.b.32627.
Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000844. doi: 10.1101/mcs.a000844.
Yu HE, Hawash K, Picker J, Stoler J, Urion D, Wu BL, Shen Y. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Clin Genet. 2012 Mar;81(3):257-64. doi: 10.1111/j.1399-0004.2011.01637.x.
Figure 1a : note facial asymmetry for hypoplasia of the left side of the face, low hairline, broad nasal bridge, pear shaped tip of the nose, short columella and small chin; 1b : the left ear is posteriorly-rotated, with thick helix and preauricular tag and pit.
Figure 2 : sacral dimple.