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1. 2. A 3 DNA 16,571 DNA. 2011 GENCODE 53934 , : 20110 ( RefSeq 23660) 11790 RNA (long non-coding RNA) 8801 RNA (small non-coding RNA) 12869 1 (2363) (125). 3. 99.1% 1% 4. M (SNP) : 1/ kb ( 1100-1300 ) / (10 Kb, (markers) Sebat et al 2004, Menten et al 2006,Shaffer et al 2006, Redon et al 2006, Aradhya et al 2007, Girirajan et Eichler 2010 10. : 5-10 (Mb) : : (100 = (skewed XCI) ( 85-100%) 39. Xq28 (100%) .. (92-99% (88%) (76%) / (60%) / (76%) (45%) (74%) (33%) (59%) (52%) = Amir et al. 1999, Meins et al. 2005, Clayton- Smith,Amir et al. 1999, Meins et al. 2005, Clayton- Smith, 40. DUP Xq28, 5.03MbDUP Xq28, 5.03Mb 41. / : ~ 40% 25 / 18 - 4 / = in vitro 42. CNVs : - - ( ) : CNV : CNPs Database of genomic variants 43. 44. ; () ; ; ; ; ; ; ; , - - 45. CNVs CNVs CNVs , (: ) CNVs (: ) array-CGH (: ; ;) 46. 55/350 (15%) : 26/55 37/55 (5 , 15 , 17 ) 19/55 32/55 (7 , 10 , 15 MRI) , Syrmou et al 2012, Pediatric Research 47. - 37/55 (20 / 17 ) (CNVs): 76% 29/37 : 78,3% 8/37 CNVs : 21,62% 22/37 CNVs: 59,4% CNVs 0.008 Mb 19.01 Mb 5/37 CNVs 2 de novo 3 Syrmou et al 2012, Pediatric Research 48. : Di George ( 3 ) TBX1, DGCR8 1p36 ( 3 ) DVL1, CHRD 9q ( 3 ) CACNA1B, EHMT1, NOTCH1 Williams ( 2 ) ELN CHARGE ( 1 ) IGLL3 17q21-31 ( 1 ) Jacobsen ( del 11q23.3-q25) ( 1 ) ETS1, KCNJ5, SCN3B Syrmou et al 2012, Pediatric Research 49. 40Kb - ( -) NY / / 50. - 51. 52. CNVs CNVs DECHIPER ECARUCA