Table 1

 Overview of detected aberrations verified by FISH or quantitative PCR

PatientCNV typeLocationOrigin5′ flanking SNP (location in bp)3′ flanking SNP (location in bp)Minimum size (Mb)SNPsCNVFCNAGReported
A 1A 2XbaHind
*Parents were not available for investigation.
+, Aberration indicated by the respective analysis; 0, aberration not indicated by the respective analysis.
Location is given using coordinates from National Center for Biotechnology information assembly 35 of the human genome sequence.
104Deletion1p32.2–31.1*rs10493211 (56728933)rs10493473 (70560236)14.00814++++
77Deletion5q14.3–15De novors10514301 (87975410)rs9314105 (93668872)5.60234++++
96Deletion6q16.1–21De novors726488 (99645914)rs2010315 (112529340)12.80577++++
45Deletion7p22.3–22.2De novors10487884 (2678041)rs314593 (4257670)1.5076++++Friedman12 (3.6 Mb)
42Deletion16p12.1De novors999499 (24061164)rs10521131 (24919925)0.70220+00
72Duplication17p11.2De novors8074464 (16475319)rs10512425 (20564580)3.7031++0+Potocki20
12Deletion17q21.31De novors10491142 (40523389)rs3912061 (41520916)0.4031++0+Multiple7,21–23
5Deletion18q21.2De novors4800947 (50552638)rs784395 (51742365)1.2062+++0
85Deletion19p13.11–p12De novors876982 (18643377)rs10518280 (23846921)4.5065++++
85Duplication19q13.11–q13.12De novors7249990 (39870683)rs7255938 (42606994)2.7031+++0
100Deletion21q22.11–q22.12De novors8129832 (32329260)rs10483024 (35362570)3.00116++++
63Duplication1p36.13Maternalrs794230 (18034558)rs10489573 (18430508)0.4410++00Loss, Wong24
9Duplication2p22.3Paternalrs458628 (32427049)rs1902030 (33232242)0.6331+++0Gain, Simon-Sanchez25
55, 85Deletion2q13Paternalrs951954 (109816880)rs1002016 (111333143)0.1340+00Gain, Redon26
51Deletion2q32.1Paternalrs9288111 (185889502)rs850889 (186033754)0.1350+00
24Deletion3q24Maternalrs6770324 (146954460)rs3804663 (147293301)0.23200+00Loss, Redon26
61Duplication5q33.2Maternalrs153431 (153629119)rs1875473 (153840497)0.157++00
57Deletion5q34Maternalrs10515859 (162777146)rs6864913 (164840549)2.00120++++Menten27
29Deletion7q31.1Maternalrs1014799 (111153998)rs2249151 (111580754)0.35230+0+Gain, Simon-Sanchez25
92Deletion9p23Maternalrs983282 (11834120)rs1416572 (12177104)0.20210++0Loss, Redon26
56Deletion9p21.1Paternalrs16915373 (29850957)rs6476179 (29975815)0.0270++0Redon26
31Duplication11p11.2Paternalrs3913231 (49516614)rs1580785 (51150171)0.8523++0+Loss, Redon26
41Deletion13q21.33Maternalrs10492467 (70639393)rs1841359 (71488074)0.8059++++Redon26
102Deletion19q13.2Paternalrs9304608 (47889421)rs10518262 (48326010)0.1230+00Loss, Redon,26 Simon-Sanchez25
12Deletion22q11.23Maternalrs10483117 (23956820)rs3730109 (24399560)0.2690+0+Redon26