Publication Information

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745, 795, 809, 821, 829, 927, 936, 964, 989, 1023, 1141, 1161, 1169, 1173, 1198, 1292, 1560, 1573, 1669, 1728, 1770, 1776, 1825, 1830, 1945, 1960, 2070, 2085, 2422, 2446, 2453, 2526, 2725, 3092, 3142, 3209, 3235, 3300, 3470, 3508, 3513, 3566, 3570, 3579], 'prenatal': [16, 24, 99, 253, 344, 1907, 1936, 1962, 2340, 3151, 3184, 3210, 3474], 'cytogenetic': [17, 100, 110, 450], 'diagnosis': [18, 57, 101, 1963, 2341, 3152, 3185, 3483], 'since': [19, 36, 319], 'its': [20, 199, 2255], 'first': [21, 38, 92, 1969], 'application': [22, 3144], 'to': [23, 51, 154, 164, 172, 252, 304, 379, 438, 517, 621, 638, 662, 671, 685, 691, 715, 826, 1157, 1279, 1417, 1502, 1529, 1646, 1739, 1751, 1838, 1849, 1861, 1889, 1928, 2251, 2314, 2347, 2443, 2500, 2601, 2607, 2624, 2798, 2835, 2869, 2893, 2946, 2967, 2978, 3056, 3082, 3122, 3183, 3202, 3242, 3276, 3345, 3364, 3376, 3400, 3402, 3407, 3410, 3428, 3436, 3481, 3488, 3516], 'testing': [25, 291, 591, 1896], 'in': [26, 44, 72, 80, 90, 98, 115, 231, 248, 260, 292, 461, 594, 725, 775, 812, 890, 916, 1004, 1047, 1079, 1111, 1136, 1282, 1287, 1343, 1350, 1367, 1568, 1664, 1674, 1701, 1711, 1782, 1789, 1906, 1935, 1972, 2094, 2135, 2233, 2258, 2467, 2547, 2617, 2665, 2695, 2740, 2857, 2884, 2920, 3041, 3150, 3171, 3269, 3337, 3352, 3445, 3473], '1966': [27], '(Steele': [28], 'and': [29, 32, 63, 122, 144, 149, 175, 208, 277, 279, 299, 370, 418, 426, 459, 494, 498, 644, 688, 739, 794, 984, 992, 1037, 1053, 1083, 1108, 1110, 1120, 1131, 1134, 1171, 1187, 1209, 1230, 1258, 1285, 1313, 1352, 1358, 1369, 1388, 1398, 1430, 1449, 1483, 1492, 1556, 1566, 1662, 1774, 1793, 1833, 1876, 1931, 1964, 2109, 2349, 2359, 2393, 2403, 2462, 2491, 2517, 2633, 2653, 2701, 2731, 2764, 2787, 2811, 2818, 2843, 2852, 2872, 2902, 2985, 3024, 3145, 3156, 3195, 3222, 3229, 3250, 3484, 3512, 3554, 3563, 3573], 'Breg,': [30], '1966)': [31], 'become': [34, 1926, 1956], 'routine': [35, 290, 2260], 'use': [39, 744, 2256], 'banding': [42, 369], '(karyotyping)': [43], 'early': [46], '1970s.': [47], 'Karyotyping': [48, 298], 'proved': [50], 'be': [52, 283, 365, 391, 400, 424, 439, 503, 628, 636, 658, 669, 804, 902, 1063, 1280, 1462, 1503, 1525, 1749, 1752, 1802, 1904, 2325, 2444, 2682, 2870, 2894, 3054, 3080, 3154, 3158, 3277, 3281, 3310, 3321, 3423, 3523], 'highly': [53], 'reliable': [54], 'numerical': [59], 'abnormalities': [61, 1303, 1378, 2061, 2111, 2632, 2759], '(aneuploidies)': [62], 'large': [64], 'structural': [65, 2060, 2110], 'rearrangements': [66, 161, 1011, 1792, 1831, 2084, 2558], '[>5–10': [67], 'million': [68], 'base': [69], '(Mb)': [70], 'pairs]': [71], 'fetal': [73, 598, 1977, 3236, 3354, 3432], 'obtained': [75], 'invasively': [76], 'by': [77, 105, 367, 505, 844, 887, 904, 1065, 1070, 1104, 1527, 1540, 1612, 1655, 1736, 1804, 1874, 2123, 2328, 2342, 2470, 2823, 2959, 3017, 3420, 3525], 'either': [78, 1987], 'amniocentesis': [79, 2128], 'second': [82, 2068], 'trimester': [83], 'pregnancy': [85, 990], 'or': [86, 167, 328, 483, 561, 615, 681, 694, 700, 766, 1027, 1485, 1534, 1552, 1730, 1754, 1759, 1811, 1871, 1879, 2002, 2043, 2286, 2450, 2711, 2957, 3126, 3361, 3389, 3409, 3452], 'chorionic': [87], 'villus': [88], 'sampling': [89, 3221], 'trimester.': [93], 'The': [94, 179, 262, 434, 1405, 1435, 1968, 2067, 2684, 3060], 'supremacy': [95], 'karyotyping': [97, 458, 1731, 3326], 'challenged': [104], 'introduction': [107], 'molecular': [109, 374, 831, 1919, 2027, 3211], 'methods': [111, 215], 'including': [112, 2506], 'interphase': [113], 'fluorescence': [114, 1135, 1286, 1567, 1663], 'situ': [116, 1137, 1288, 1569, 1665], 'hybridization': [117, 196, 1138, 1244, 1263, 1289, 1570, 1666], '(FISH),': [118], 'quantitative': [119], 'fluorescent': [120], 'PCR': [121, 3234], 'more': [123, 314, 337, 1009, 2044, 2591, 3064], 'recently,': [124], 'multiplex': [125], 'ligation-dependent': [126], 'probe': [127, 1246, 1591, 2155, 2496], 'amplification': [128, 2226, 3363], '(Boormans': [129], 'et': [130, 574, 707, 908, 912, 1509, 1991, 1995, 1999, 2007, 2013, 2017, 2237, 2305, 2514, 2523, 2638, 2642, 2658, 2754, 2906, 3000, 3036, 3072, 3076, 3133, 3137], 'al.,': [131, 575, 708, 909, 913, 1510, 1992, 1996, 2000, 2008, 2014, 2018, 2238, 2515, 2524, 2639, 2643, 2907, 3037, 3073, 3077, 3134, 3138], '2010)': [132, 2001, 2019, 3078], 'rapid': [135, 219], 'detection': [136, 182, 448, 664, 720, 868, 2279, 2542, 2555, 2988], 'aneuploidies': [138], 'chromosomes': [140, 147, 562, 820, 1069, 1335, 1743, 1758, 1798, 2105, 2521], '13,': [141], '18,': [142], '21': [143], 'sex': [146, 3237], '(Shaffer': [148], 'Bui,': [150], '2007).': [151], 'In': [152, 660, 748, 760, 877, 1091, 1145, 1454, 1841, 1911, 2224, 2439, 2746, 2804, 2995, 3107, 3460], 'addition': [153, 661], 'common': [156, 586, 3065], 'aneuploidies,': [157], 'many': [158, 1048, 3497], 'submicroscopic': [159, 228], 'chromosomal': [160, 368], 'that': [162, 224, 350, 356, 363, 372, 389, 436, 471, 626, 655, 741, 797, 858, 897, 1323, 1799, 1901, 2032, 2157, 2205, 2228, 2309, 2323, 2352, 2376, 2579, 2722, 2774, 2903, 2911, 3170, 3315, 3521], 'lead': [163, 690], 'copy-number': [165, 184, 2281], 'gains': [166, 699, 1052, 1170], 'losses': [168, 701, 1054, 1326], 'have': [169, 341, 427, 752, 791, 1469, 1845, 2495, 3049, 3275, 3384], 'shown': [171, 1342], 'cause': [173], 'distinctive': [174], 'recognizable': [176], 'clinical': [177, 2088, 2288, 2955], 'phenotypes.': [178], 'sensitivity': [180], 'alterations': [185, 525], 'increased': [187, 2022, 2037, 2243, 2974], 'significantly': [188, 2407, 2430], 'with': [189, 198, 205, 227, 233, 269, 331, 349, 403, 430, 563, 596, 630, 732, 974, 1219, 1421, 1590, 1598, 1628, 1641, 1784, 1952, 1980, 2058, 2249, 2297, 2389, 2509, 2629, 2713, 2814, 2819, 2829, 2925, 2948, 2992, 3014, 3046, 3068, 3115, 3187, 3358], 'advent': [191], 'microarray-based': [193], 'comparative': [194], 'genomic': [195, 229, 419, 432, 2295, 2538, 3148, 3204], '(aCGH)': [197], 'commercially': [200], 'available': [201, 2700], 'multiple': [202, 241, 1866], 'platforms.': [203], 'Together': [204], 'improved': [206], 'assemblies': [207], 'annotation': [209], 'genome': [211, 2461, 2587, 3355], 'sequence': [212], 'data,': [213], 'these': [214, 324, 523, 640, 787, 834, 920, 1496, 1563, 1721, 1822, 2574, 3029], 'allow': [216, 1824, 2541], 'identification': [220, 646, 1868, 2980], 'new': [222, 463], 'syndromes': [223], 'are': [225, 301, 326, 526, 539, 683, 861, 1055, 1085, 1096, 1151, 1166, 1500, 1898, 1940, 2353, 2386, 2456, 2463, 2529, 2944, 2965, 3112], 'associated': [226, 2057, 2388, 2508, 3045, 3067, 3357], 'changes': [230], 'children': [232, 330], 'idiopathic': [234], 'intellectual': [235, 333, 2454], 'disabilities,': [236, 336], 'autism,': [237], 'developmental': [238], 'delay': [239], 'and/or': [240, 334, 2053], 'congenital': [242], 'anomalies.': [243], 'This': [244, 397, 855, 3395, 3491], 'spurred': [246], 'interest': [247], 'applying': [249], 'this': [250, 289, 462, 506, 512, 631, 905, 945, 1275, 1842, 2065, 2187, 2247, 2270, 2492, 2609, 2673, 3025, 3583], 'technology': [251, 398, 906], 'diagnosis.': [254], 'During': [255], 'ISPD': [257], '2010': [258], 'meeting': [259], 'Amsterdam,': [261], 'Netherlands,': [263], 'a': [264, 286, 455, 624, 648, 722, 726, 764, 873, 946, 954, 1000, 1032, 1038, 1041, 1081, 1203, 1210, 1224, 1231, 1252, 1261, 1307, 1314, 1382, 1389, 1440, 1470, 1474, 1478, 1486, 1518, 1531, 1537, 1545, 1549, 1582, 1594, 1622, 1629, 1637, 1670, 1681, 1691, 1698, 1708, 1725, 1785, 1976, 1981, 2140, 2148, 2153, 2206, 2259, 2312, 2319, 2345, 2471, 2481, 2536, 2580, 2634, 2675, 2747, 2784, 2815, 2830, 2916, 2986, 3009, 3032, 3292, 3301, 3338, 3359, 3365, 3386, 3390, 3441, 3468, 3595], 'very': [265, 3173], 'well-attended': [266], 'debate': [267, 2265], 'dealt': [268], 'current': [271, 717], 'role': [272, 456, 1727], 'traditional': [274], 'cytogenetics': [275, 2138, 2261, 3216, 3372, 3472], '(karyotyping': [276], 'FISH)': [278], 'whether': [280, 2942, 3430], 'aCGH': [281, 549, 2194, 2827], 'can': [282, 364, 399, 423, 558, 627, 689, 743, 1061, 1460, 1468, 2909, 3522], 'considered': [284, 1905, 2077, 2396, 2686, 2789, 2874, 2892, 3299], 'replacement': [287], 'near': [294, 1814, 3174], 'future.': [295, 814], 'Lisa': [296, 3585], 'Shaffer': [297, 3587], 'FISH': [300, 460, 935, 977, 1006, 1071, 1105, 1238, 1320, 1395, 1506, 1528, 1557, 1588, 1634, 1688, 1705, 1729, 2151, 2163], 'essential': [302, 963, 1769, 2078], 'adjuncts': [303], 'microarray': [305, 311, 383, 421, 443, 472, 780, 845, 939, 1021, 1176, 1269, 1471, 1515, 1541, 1613, 1656, 1737, 1766, 1786, 1805, 1857, 2343, 3526], 'analysis.': [306], 'Signature': [307, 931, 996, 1181, 3505, 3592], 'Genomics': [308, 997], 'provided': [310, 2122], 'analyses': [312, 1177], 'on': [313, 415, 981, 1015, 1034, 1040, 1087, 1098, 1117, 1125, 1153, 1248, 1265, 1271, 1277, 1330, 1400, 1818, 2175, 2266, 2300, 2363, 2561, 2838, 3008, 3031, 3253, 3285, 3425, 3582], 'than': [315, 338, 1012, 2355, 2594], '45': [316], '000': [317], 'cases': [318, 325, 340, 755, 1003, 1078, 1989, 2095, 2744, 2859, 3520], '2004.': [320], 'Although': [321, 548, 2142], 'most': [322, 585, 2357], 'newborns': [327], 'older': [329], 'developmental,': [332], 'physical': [335, 1158], '2000': [339], 'evaluation.': [345], 'Our': [346, 1074], 'experience,': [347], 'along': [348], 'other': [352, 1112, 1122, 1127, 1374], 'laboratories,': [353], 'demonstrated': [355, 1636, 2156], 'microarrays': [357, 1875], 'will': [358, 501, 728, 1787, 1794], 'detect': [359, 559, 582, 605, 639, 672, 2501], 'those': [360, 371, 796, 2507], 'unbalanced': [361, 737, 810, 1025, 1143, 1200, 1221, 1463, 1466, 1554, 1760, 3438], 'aberrations': [362], 'seen': [366, 1539], 'require': [373, 2419, 3329], 'methods,': [375], 'such': [376, 491, 1922, 2035, 2092, 2415], 'FISH,': [378, 3421], 'visualize.': [380], 'More': [381], 'importantly,': [382], 'uncovered': [386], 'complex': [387, 1010, 3453, 3519], 'karyotypes': [388], 'cannot': [390, 550, 581], 'discerned': [392], 'through': [393], 'light': [395], 'microscope.': [396], 'high': [401, 428], 'throughput,': [402], 'turnaround': [404], 'times': [405, 2220], 'fast': [407], '48': [409], 'h': [410], 'from': [411, 1346, 1355, 1363, 1372, 1414, 1423, 1427, 1432, 1602, 2064, 2147, 2368, 2783, 2833], 'DNA': [412, 2473, 3227], 'extraction.': [413], 'Depending': [414], 'platform': [417, 2583, 3289], 'content,': [420], 'comprehensive': [425], 'resolution': [429, 2831], 'extensive': [431, 3580], 'coverage.': [433], 'questions': [435], 'need': [437, 3399], 'answered': [440], 'are:': [441], 'Is': [442, 452], 'sufficient': [445, 3293], 'abnormalities?': [451], 'there': [453, 478, 1723, 2310, 2528], 'still': [454, 2273], 'era': [464], 'cytogenetics?': [466], 'It': [467, 893, 2373, 3167, 3279], 'is': [468, 474, 479, 608, 652, 894, 962, 1031, 1116, 1124, 1341, 1348, 1353, 1365, 1370, 1558, 1724, 1768, 1971, 2075, 2079, 2121, 2272, 2311, 2374, 2489, 2577, 2941, 3217, 3298, 3342, 3356, 3373, 3396, 3434, 3588], 'well': [469, 895], 'recognized': [470, 2485], 'not': [475, 502, 527, 803, 870, 901, 943, 1616, 1659, 1801, 2112, 2417, 2429, 2464, 2681, 2693, 3328, 3343, 3374], 'useful': [476], 'when': [477, 2192, 3291], 'no': [480, 713, 2530], 'net': [481], 'gain': [482, 765, 1033, 1082, 1205, 1226, 1276, 1384, 1451, 1476, 1521, 1538, 1584, 1671, 1683, 1700], 'loss': [484, 767, 1039, 1084, 1212, 1233, 1309, 1316, 1391, 1489], 'chromosomes.': [487], 'Thus,': [488, 915, 1536, 1762, 2480, 2938], 'balanced': [489, 499, 524, 536, 649, 673, 723, 758, 788, 1791, 2098, 3442], 'rearrangements,': [490, 674, 2102], 'reciprocal': [493, 679, 2510], 'Robertsonian': [495, 537, 650], 'translocations,': [496], 'inversions': [497], 'insertions,': [500, 1756], 'detected': [504, 629, 843, 886, 903, 1611, 1654, 2139, 2757, 2856, 3258, 3351], 'technology.': [507, 632, 2066], 'On': [508, 1333, 1717, 3414], 'basis': [510, 1719], 'fact,': [513, 2225, 2440, 2996], 'another': [514], 'question': [515], 'comes': [516], 'mind.': [518], 'Does': [519], 'it': [520, 530, 607, 634, 667, 2158, 2576, 3200, 3341], 'matter': [521], 'if': [522, 779, 2690, 3086, 3272, 3347], 'detected?': [528], 'Indeed': [529], 'may.': [531], 'For': [532], 'example,': [533], 'carriers': [534], 'translocations': [538, 680, 789, 1467, 2511], 'at': [540, 702, 768, 1180, 1941, 2397, 2451, 2548, 3021, 3504], 'risk': [541, 734, 2398, 2410, 2433, 3103, 3163, 3380], 'uniparental': [543], 'disomy': [544], '(UPD)': [545], '(Shaffer,': [546], '2006).': [547], 'identify': [551], 'UPD,': [552, 589, 606], 'single': [553, 1457, 1475, 1487, 1497, 1519, 1575, 1988], 'nucleotide': [554], 'polymorphism': [555], '(SNP)': [556], 'arrays': [557, 580, 603, 1954, 3149], 'regions': [560, 1817, 2383, 2394, 2468, 2488, 2532], 'copy-neutral': [564], 'absence': [565, 2886], 'heterozygosity,': [567], 'which': [568, 822, 1005, 1060, 1080, 1946, 2071, 2086, 2136, 2527, 2618, 2666, 2935, 3042], 'may': [569, 604, 635, 657, 668, 856, 900, 1524, 1543, 1748, 1800, 2062, 2406, 2428, 3096, 3465], 'indicate': [570], 'an': [571, 1024, 1199, 1220, 1547, 1553, 1599, 1733, 1894, 2127, 2436, 2447, 2568, 2969, 2973, 3404, 3437, 3589], 'isodisomy': [572, 619], '(Faas': [573], '2010).': [576, 914, 2644, 3038], 'However,': [577, 774, 1046, 2414], 'even': [578, 3085], 'SNP': [579, 602], 'heterodisomy,': [583, 625], 'form': [587], 'without': [590, 697], 'parents': [593, 2679, 3398, 3427], 'conjunction': [595, 1783], 'specimen.': [599], 'Therefore,': [600], 'although': [601, 711, 2263, 3476], 'only': [609, 784, 836, 879, 1062, 2172, 2213, 2418, 2465, 2597, 3004], 'rarest': [611], 'forms': [612], 'isodisomy,': [614, 666], 'significant': [616], 'stretches': [617], 'due': [620, 3435], 'recombination': [622], 'Nonetheless,': [633], 'important': [637, 670, 3344], 'relatively': [641, 2207], 'rare': [642, 2502, 2670], 'events,': [643], 'translocation': [651, 724, 1201, 1222, 1642, 3360], 'one': [653, 1035, 1114, 1118, 1329, 1356, 1970, 2173, 2595, 2864, 2879, 3446], 'clue': [654], 'UPD': [656], 'present.': [659], 'because': [675, 1807, 2130], 'some': [676, 1092, 1455, 2294, 3093], 'de': [677, 1253, 2099, 2795, 2881], 'novo': [678, 1254, 2100, 2882], 'insertions': [682, 1504], 'known': [684, 2320], 'disrupt': [686], 'genes': [687, 3044, 3197], 'abnormal': [692, 938, 958, 1734, 2177, 2437, 2448, 2569, 3105], 'phenotypes': [693], 'genetic': [695, 987, 1836, 1966, 2198, 2360, 3110, 3486], 'disease': [696, 2709], 'detectable': [698, 1803], 'rearrangement': [704, 1773, 3443], 'breakpoints': [705], '(Bodrug': [706], '1990).': [709], 'Finally,': [710, 1512], 'consequence': [714], 'fetus,': [718], 'family': [727, 801, 972, 1828, 1891], 'provide': [729, 2589], 'couple': [731], 'future': [733, 993], 'assessments': [735], 'offspring': [738, 811], 'information': [740, 1873, 1886], 'they': [742, 2667, 2691, 2772], 'reproductive': [746, 994], 'planning.': [747, 995], 'our': [749, 827, 891, 2805, 2900], 'laboratory,': [750, 2806], 'we': [751, 933, 2611, 2807, 2908, 2943, 2964], 'examined': [753, 817, 1716, 2808], '56': [754], 'apparently': [757, 853, 1086, 2097], 'translocations.': [759, 1144, 1464, 1761], '11%': [761], 'cases,': [763, 778, 835, 922, 1049, 1093, 1113, 1456, 2890, 2924], 'presumed': [770], 'breakpoint': [771], 'was': [772, 925, 1610, 1653, 2145, 2159, 2217, 2674, 2867, 2873, 2880, 2891], 'detected.': [773], '89%': [776], 'were': [782, 798, 824, 842, 885, 1178, 1189, 1327, 2189, 2692, 2704, 2723, 2738, 2781, 2800, 2855, 2936], 'performed,': [786], 'would': [790, 802, 2324, 2588, 3153], 'gone': [792], 'undetected,': [793], 'inherited,': [799], 'aware': [805], 'potential': [808, 1778], 'We': [815, 941], 'recently': [816, 2614], '55': [818], 'marker': [819, 921, 1532, 1550, 1709, 1757, 1797, 2104, 2520, 3367], 'samples': [823], 'submitted': [825], 'laboratory': [828, 1075, 1932], 'further': [830, 1777, 2865, 3331], 'characterization.': [832], 'Of': [833], '14': [837], '26': [839], 'nonmosaic': [840], 'markers': [841, 860, 884, 2046], 'analysis,': [846, 2863], 'leaving': [847], '46%': [848], 'array': [850, 888, 950, 1017, 2074, 2582, 3248, 3463], 'results': [851, 1140, 1188, 1291, 1572, 1668, 2593, 2952, 3007, 3254], 'normal.': [854], 'reflect': [857], 'mainly': [862], 'heterochromatin,': [863], 'but': [864, 952, 2425], 'lack': [866], 'does': [869, 3327, 3381], 'completely': [871, 2160, 3213], 'exclude': [872, 3243], 'possible': [874, 1888, 2267, 2278, 3207], 'phenotypic': [875], 'effect.': [876], 'addition,': [878], '12': [880], '29': [882], 'mosaic': [883, 2544, 2557], 'laboratory.': [892], 'documented': [896], 'low-level': [898, 1809], 'mosaicism': [899, 1810], '(Ballif': [907], '2006;': [910], 'Neill': [911, 3553], 'majority': [918], 'crucial': [926], 'their': [928, 3509], 'detection.': [929], 'At': [930], 'Genomics,': [932], 'perform': [934], 'every': [937], 'result.': [940], 'do': [942], 'consider': [944], 'confirmation': [947, 3332], 'finding': [951, 1735, 2081, 2188, 3061], 'rather': [953], 'visualization': [955, 961, 1764], 'chromosome.': [959, 1090, 1163, 1300, 2178, 3368], 'Chromosome': [960, 1780], 'identifying': [965, 1790], 'type': [967, 3287], 'rearrangement,': [969], 'assessing': [970, 1775, 1826], 'additional': [971, 1827, 2202], 'members': [973, 1829], 'same': [976, 1089, 1100, 1299, 1402, 1514], 'probes': [978, 1150, 2380, 2566, 3297], 'used': [980, 2647], 'proband': [983], 'providing': [985, 1834, 1883, 3514], 'accurate': [986, 1835, 1961], 'counseling': [988, 1837, 3487], 'management': [991], 'identified': [999, 1077, 1832, 3524], 'number': [1001, 2563, 3294], 'evaluation': [1007, 3262], 'revealed': [1008, 1103, 1240, 1322, 1501, 1526, 1690, 1707, 1750, 2195], 'suspected': [1013], 'based': [1014], 'results.': [1018], 'A': [1019, 3206], 'typical': [1020], 'pattern': [1022, 1197, 1264, 1411, 1441, 1472, 1516], 'translocation,': [1026, 1555, 3450], 'double': [1028, 1294], 'segmental': [1029, 1295, 1458, 1488, 1498, 1520, 1576, 1746], 'imbalance,': [1030], 'different': [1042, 2820, 3015, 3022], '(Figure': [1044, 1058, 1072, 1106, 1129, 1481, 1490, 1522], '1A).': [1045], 'independent': [1056, 1242], 'events': [1057], '1B),': [1059], 'determined': [1064, 2868], 'visualizing': [1066], 'rearranged': [1068, 1436, 1742], '1C).': [1073], 'both': [1094, 1334, 2382, 2841], 'imbalances': [1095, 1296, 1459, 1499, 1747, 2545], 'located': [1097, 2466], '2A': [1107], 'B),': [1109], 'abnormality': [1115, 1979], 'homolog,': [1119, 1357], 'imbalance': [1123], 'homolog': [1128], '2C': [1130], 'D).': [1132, 1493], 'Microarray': [1133, 1284, 1565, 1579, 1619, 1661, 1678, 1695], '(FISH)': [1139, 1290, 1571, 1667], 'apparent': [1142, 1293, 1574], 'each': [1146, 1162, 1331], 'figures,': [1149], 'ordered': [1152], 'x-axis': [1155], 'according': [1156], 'mapping': [1159], 'positions': [1160], 'Plot': [1164], 'areas': [1165], 'shaded': [1167], 'pink': [1168], 'blue': [1172], 'losses.': [1174], 'All': [1175], 'performed': [1179, 2129, 3424], 'Genomic': [1182, 3506, 3593], 'Laboratories,': [1183, 3594], 'Spokane,': [1184], 'WA,': [1185], 'USA,': [1186], 'visualized': [1190], 'using': [1191, 2152, 2824, 3018], 'Genoglyphix®': [1192], '(Signature': [1193], 'Genomics).': [1194], '(A)': [1195, 1301, 1578, 1677], 'Typical': [1196], 'showing': [1202, 1223, 1396, 1581, 1621, 1680, 1697, 2204], '14.3-Mb': [1204], '13q': [1207], '(top)': [1208, 1229], '10.4-Mb': [1211], '18q': [1214], '(bottom).': [1215, 1236], '(B)': [1216, 1319, 1587, 1687], 'Pattern': [1217], 'consistent': [1218, 1627], '1.3-Mb': [1225], '1q': [1228], '5.8-Mb': [1232], '10p': [1235], '(C)': [1237, 1376, 1618, 1694], 'two': [1241, 1325, 1675, 1943, 2042, 2613, 2625, 2762, 2794, 2850], 'events:': [1243], 'RP11-631M21': [1247], '10': [1250, 2720], 'showed': [1251, 1260, 1274, 1593, 2171], 'deletion': [1255, 1397, 1446, 1607, 1624, 1650, 3125, 3350], '(arrow;': [1256], 'left)': [1257], 'RP11-908P10': [1259], 'normal': [1262, 1406, 1982, 2149, 2234, 2635, 2785, 2816], '1q44': [1266, 1278], '(right).': [1267], 'Subsequent': [1268], 'father': [1273], 'paternal': [1281], 'origin': [1283, 2108], 'involving': [1297, 1304, 1379], 'Two': [1302, 1377], '4,': [1306, 1336], '300-kb': [1308], '4q28.3': [1311], '(arrow)': [1312, 1387], '400-kb': [1315], '4q33.': [1318], 'found': [1328, 2668, 2719, 2739, 2773], 'homolog.': [1332, 1375], 'centromere': [1338], 'probe,': [1339, 1361], 'D4Z1': [1340], 'green.': [1344], 'RP11-940E8,': [1345], '4q28.3,': [1347], 'labeled': [1349, 1366], 'red': [1351], 'deleted': [1354, 1371], 'distal': [1360, 1418, 1645], 'RP11-1105N10,': [1362], '4q33': [1364], 'green': [1368], '9,': [1381], '9-Mb': [1383], '9q21.13q21.32': [1386], '6.7-Mb': [1390], '9q31.1q31.3.': [1393], '(D)': [1394, 1633, 1704], 'duplication': [1399, 1692, 3131], '9.': [1404], '9': [1408, 1438], 'shows': [1409, 1439], 'red-green-green': [1413], 'proximal': [1415, 1685, 1702], '9q': [1416, 1419], 'hybridized': [1420], 'RP11-14L3': [1422], '9q21.13': [1424, 1453], '(red),': [1425], 'RP11-2B6': [1426], '9q22.32': [1428], '(green)': [1429], 'RP11-101N23': [1431], '9q31.3': [1433], '(green).': [1434], 'red-green-red,': [1443], 'confirming': [1444], '9q31': [1448], 'also': [1461, 1903, 2426, 3053, 3559], 'These': [1465], 'segment': [1480], '3A': [1482], 'B)': [1484], '3C': [1491], 'Many': [1494], 'after': [1505, 1732, 1765, 1892], '(Neill': [1508], '2011).': [1511], '4)': [1523], 'represent': [1530, 1544], 'duplication.': [1535], 'duplication,': [1546], 'insertion,': [1548], 'critical': [1559], 'distinguishing': [1561], 'between': [1562, 2483, 2972], 'possibilities.': [1564], 'imbalances.': [1577], 'result': [1580, 1620, 1679, 1696], '2.3-Mb': [1583], '22qter.': [1586], 'RP11-676E13': [1592], 'derivative': [1595, 1638], '20': [1597], 'extra': [1600], 'signal': [1601, 2174], '22': [1604], '(arrow).': [1605, 1648, 1693], 'No': [1606, 1649], '20qter': [1609], '(data': [1615, 1658], 'shown).': [1617], '3.2-Mb': [1623], '22q11.1q11.21,': [1626], 'simple': [1630], 'interstitial': [1631], 'deletion.': [1632], '2': [1640], '22q': [1644], '22q11.21': [1647], '2q': [1652], 'shown)': [1660], '13q11q12.12': [1673], 'cases.': [1676], '4.6-Mb': [1682], '13q.': [1686, 1703], '4.8-Mb': [1699], '27': [1712], '30': [1714, 2751], 'findings,': [1722], 'strong': [1726, 2298], 'clarify': [1740], 'further.': [1744], 'Single': [1745], 'duplications': [1753], 'deletions,': [1755], 'delineating': [1771], 'imbalance.': [1779, 2534], 'aid': [1788], 'help': [1795], 'find': [1796], 'inadequate': [1812], 'coverage': [1813, 2599], 'pericentromeric': [1816, 2404], 'microarray.': [1820], 'Together,': [1821], 'technologies': [1823], 'family.': [1840], 'discussion,': [1843], 'I': [1844], 'restricted': [1846], 'my': [1847], 'comments': [1848], 'scientific': [1851], 'aspects': [1852, 1900], 'limitations': [1855], 'testing.': [1858, 1908, 1938], 'Issues': [1859], 'relating': [1860], 'cost': [1863], 'performing': [1865], 'assays,': [1867], 'unclear': [1870, 2802, 2896], 'unwanted': [1872], 'ethical': [1878, 3058], 'moral': [1880], 'obligations': [1881], 'much': [1885, 2590], 'undergoing': [1893], 'invasive': [1895], 'procedure': [1897], 'all': [1899, 2458, 2573, 2767, 2813], 'must': [1902, 3280, 3309, 3422], 'Orsetta': [1909], 'Zuffardi': [1910], 'last': [1913, 2878], '2–3': [1914], 'years,': [1915], 'robustness': [1917], 'karyotype': [1920, 1951, 2253, 2636, 2817], 'technologies,': [1921], 'aCGH,': [1924], 'obvious': [1927, 2707], 'medical': [1930], 'community': [1933], 'involved': [1934], 'diagnostic': [1937, 2023, 2244, 2975, 3339], 'There': [1939], 'least': [1942, 2452, 2549], 'situations': [1944], 'augmentation': [1948], 'conventional': [1950, 2137, 2252, 3215, 3417, 3471], 'genome-wide': [1953, 2073, 2825, 3462], 'gold': [1958], 'proper': [1965, 3485], 'counseling.': [1967], 'setting': [1974], 'sonographic': [1978, 2033, 2631, 2727], 'karyotype.': [1983, 2028, 2329], 'Several': [1984], 'articles': [1985, 2616], 'reporting': [1986], '(Maitz': [1990], '2008;': [1993, 1997], 'Vetro': [1994], 'Choy': [1998], 'cohorts': [2003, 2626], 'fetuses': [2005, 2351, 2664, 2810, 3013], '(Tyreman': [2006, 2637], '2009;': [2009, 2015, 2640, 3074], 'van': [2010, 2997], 'den': [2011, 2998], 'Veyver': [2012, 2999], 'Faas': [2016, 2641, 2753, 2905], 'highlight': [2020], 'yield': [2024, 2245, 2976], 'General': [2029], 'practice': [2030], 'suggests': [2031], 'anomalies,': [2034], 'nuchal': [2038], 'translucency,': [2039], 'association': [2040], 'echographic': [2045], 'aneuploidy,': [2048], 'amniotic': [2049], 'fluid': [2050], 'volume': [2051], 'alteration': [2052], 'intrauterine': [2054], 'growth': [2055], 'retardation': [2056], 'major': [2059, 2630], 'benefit': [2063], 'circumstance': [2069], 'now': [2076], 'significance': [2089, 2737, 2956], 'remains': [2090, 3479], 'ill-defined,': [2091], 'supernumerary': [2103, 2519, 3366], 'unknown': [2107, 2287], 'obviously': [2113], 'classifiable': [2114], 'clinically': [2116, 2688, 2929], 'irrelevant': [2117], 'polymorphisms.': [2118], 'An': [2119], 'example': [2120], 'case': [2125], 'advanced': [2132], 'maternal': [2133, 3244], 'age': [2134], '15q+.': [2141], '15q+': [2144], 'inherited': [2146, 2782, 2871], 'mother,': [2150], 'painting': [2154], '15.': [2162], 'Prader-Willi': [2167], 'syndrome/Angelman': [2168], 'syndrome': [2169, 3129], 'region': [2170, 2211, 2229, 3130], 'Doubts': [2179], 'about': [2180, 2662, 2921, 2926], 'pathogenic': [2182, 2423, 2716], 'versus': [2183], 'benign': [2184], 'nature': [2185], 'definitely': [2190], 'solved': [2191], 'exact': [2197], 'content': [2199], 'material,': [2203], 'small': [2208], '(1.4': [2209], 'Mb)': [2210], 'containing': [2212, 2379, 2596], 'blocks': [2214], 'pseudogenes': [2216], 'amplified': [2218], 'several': [2219], 'becoming': [2221], 'microscopically': [2222], 'visible.': [2223], 'reported': [2232, 2442, 2661, 2694, 2715, 2889], 'individuals': [2235, 2697], '(Fantes': [2236], '2002).': [2239], 'Evidence': [2240], 'regarding': [2241, 3193], 'technique': [2248], 'respect': [2250], 'makes': [2254], 'tempting': [2257], 'practice,': [2262], 'pitfalls': [2268], 'approach': [2271], 'ongoing': [2274], 'essentially': [2275, 2427], 'concerning': [2276], 'variations': [2282], '(CNVs)': [2283], 'uncertain': [2285, 2371, 2412, 2736, 2954, 2993, 3006], 'significance.': [2289, 2372, 2803, 2897, 2994], 'Considering': [2290], 'frequency': [2292], 'disorders': [2296], 'impact': [2299], 'postnatal': [2302], 'phenotype,': [2303, 2449], 'Ogilvie': [2304], 'al.': [2306, 2659, 2755, 3001], '(2009)': [2307, 2660, 3002], 'estimated': [2308], '1-in-300': [2313], '1-in-600': [2315], 'chance': [2316], 'detecting': [2318], 'disability-causing': [2321], 'CNV': [2322, 2866], 'otherwise': [2326], 'undetected': [2327], 'Beyond': [2330], 'pessimistic': [2332], 'point': [2333, 2940], 'view': [2335], 'Shuster': [2337], '(2007)': [2338], 'envisaging': [2339], 'means': [2346], 'search': [2348], 'destroy': [2350], 'less': [2354], 'perfect,': [2356], 'geneticists': [2358], 'counselors': [2361, 3111], 'converge': [2362], 'serious': [2365, 3387], 'problem': [2366, 3117], 'arising': [2367], 'CNVs': [2369, 2441, 2687, 2721, 2734, 2931, 2991, 3066, 3194, 3259], 'clear': [2375, 2578], 'targeted': [2377, 2962, 3019], 'platforms': [2378, 2416, 2623, 2650, 2828, 2914, 3020, 3040], 'covering': [2381, 2584], 'whose': [2384], 'deletion/duplication': [2385, 3433], 'clearly': [2387], 'fully': [2390], 'penetrant': [2391], 'diseases,': [2392], 'traditionally': [2395], '(such': [2399], 'subtelomeric': [2402], 'ones)': [2405], 'reduce': [2408, 2431, 3057], 'findings.': [2413, 3166], 'continuous': [2420], 'updating': [2421], 'deletions/duplications': [2424], 'having': [2435, 2567, 2953], 'child.': [2438], 'responsible': [2445], 'disability,': [2455], 'scattered': [2457], 'over': [2459], 'mediated': [2469], 'specific': [2472, 2961], 'architecture': [2474], 'favoring': [2475], 'occurrence': [2476], 'recurrent': [2478], 'deletions/duplications.': [2479], 'backbone': [2482, 2493, 2539], 'largely': [2484], "'at": [2486], "risk'": [2487], 'required,': [2490], 'should': [2494, 2540, 3320], 'spacing': [2497], 'dense': [2498, 2537], 'enough': [2499], 'causative': [2503, 2724, 2983, 3334, 3349], 'cryptic': [2504, 2982], 'imbalances,': [2505], '(De': [2512], 'Gregori': [2513], '2007)': [2516], 'neocentromeric': [2518], '(Marshall': [2522], '2008),': [2525], 'expected': [2531], 'Moreover,': [2535, 3336], 'present': [2546, 3088, 3444], '20%': [2550], 'cells,': [2552], 'strictly': [2559], 'depends': [2560], 'consecutive': [2565, 3296], 'log2': [2570], 'ratio.': [2571], 'From': [2572], 'considerations,': [2575], 'high-resolution': [2581, 2648, 2913], 'whole': [2586], 'informative': [2592], 'low': [2598, 2987], 'limited': [2600, 3391], 'few': [2602], 'disease-associated': [2603], 'regions.': [2604], 'To': [2605], 'try': [2606], 'estimate': [2608], 'risk,': [2610], 'compared': [2612], 'published': [2615], 'authors': [2620, 2685], 'applied': [2621], 'whole-genome': [2622, 2912], 'fetuses/abortions': [2628], 'Both': [2645], 'studies': [2646], 'SNP-array': [2649], '(Affy': [2651], '6.0': [2652], 'Affy': [2654], '250k,': [2655], 'respectively).': [2656], 'Tyreman': [2657], '106': [2663], '35': [2669], 'CNVs.': [2671, 2717, 3335], 'As': [2672], 'retrospective': [2676], 'study,': [2677], 'could': [2680, 3027, 3079, 3198], 'examined.': [2683], 'relevant': [2689, 2848, 2930], 'control': [2696, 3318], '(both': [2698], 'public': [2699], 'internal': [2702], 'databases': [2703, 3180], 'used),': [2705], 'contained': [2706], 'dosage-sensitive': [2708, 3043, 3196], 'genes,': [2710], 'overlapped': [2712], 'previously': [2714], 'They': [2718], 'anomaly,': [2728], 'five': [2729, 2732, 2758, 2858], 'novel': [2730], 'syndromic.': [2733], '13': [2741], '(12%).': [2745], 'similar': [2748], 'cohort': [2749, 3010, 3034], 'fetuses/abortions,': [2752], '(2010)': [2756], 'consisting': [2760], 'UPDs': [2763], 'three': [2765, 2853], 'CNVs,': [2766, 2779, 2849], 'novel.': [2768, 2937], 'After': [2769, 2861], 'parental': [2770, 2862, 3223, 3264, 3273], 'screening,': [2771], 'among': [2775], 'remaining': [2777], 'six': [2778], 'four': [2780], 'parent': [2786, 3447], 'thus': [2788, 3455], 'likely': [2790, 3169], 'benign,': [2791, 2875], 'while': [2792, 2876], 'novo,': [2796], 'corresponding': [2797], '6%,': [2799], '63': [2809], 'abortuses': [2812], 'ultrasound': [2821], 'abnormalities,': [2822], 'oligo': [2826], 'ranging': [2832], '100': [2834], '40': [2836], 'kb': [2837], 'average': [2839], '(Agilent': [2840], '60K': [2842], '180K)': [2844], '(unpublished': [2845], 'results).': [2846], 'Clinically': [2847], 'syndromic': [2851], 'novel,': [2854], '(10%).': [2860], 'and,': [2883], 'similarly': [2888], 'Putting': [2898], 'together': [2899], 'study': [2901], 'conclude': [2910], 'leave': [2915], 'margin': [2917], 'uncertainty': [2919], '3.2%': [2922, 2949], '10%': [2927], 'identified,': [2932], '72%': [2933], 'able': [2945, 2966], 'deal': [2947], 'if,': [2958], 'adopting': [2960], 'platforms,': [2963], 'reach': [2968], 'acceptable': [2970], 'compromise': [2971], '(thanks': [2977], 'CNVs)': [2984], 'rate': [2989], 'had': [3003], '1%': [3005], '300': [3012], 'ascertainments': [3016], 'resolution,': [3023], 'group': [3026], 'confirm': [3028], 'percentages': [3030], 'larger': [3033], '(Breman': [3035], 'Targeted': [3039], 'late-onset': [3047], 'diseases': [3048], 'eliminated': [3051], 'might': [3052], 'desirable': [3055, 3155], 'concerns.': [3059], 'incomplete': [3069, 3119], 'penetrance': [3070, 3120], '(Ben-Shachar': [3071], 'Vissers': [3075], 'communicated': [3081], 'family,': [3084], 'scarcity': [3089], 'data': [3091, 3192], 'them': [3095], 'hamper': [3097], 'definition': [3099], 'correct': [3102], 'phenotype.': [3106], 'any': [3108, 3330], 'case,': [3109], 'already': [3113], 'familiar': [3114], 'related': [3121], 'DiGeorge': [3124], 'William–Beuren': [3128], '(Berg': [3132], '2007;': [3135], 'Calderon': [3136], '2009).': [3139], 'Common': [3140], 'protocols': [3141], 'interpretation': [3146], 'hopefully': [3157], 'capable': [3159], 'decreasing': [3161], 'unexpected': [3165], 'seems': [3168], 'future,': [3175], 'availability': [3177], 'shared': [3179], 'specifically': [3181], 'dedicated': [3182], 'coupled': [3186], 'growing': [3189], 'amount': [3190], 'make': [3199, 3403], 'easier': [3201], 'interpret': [3203], 'arrays.': [3205], 'workflow': [3208], 'karyotype,': [3212], 'eliminating': [3214], 'follows:': [3219], 'Fetal': [3220], 'blood': [3224], 'collection': [3225], '→': [3226, 3232, 3239, 3246, 3255, 3260, 3266], 'extraction': [3228], 'quality': [3230, 3251, 3304, 3317, 3392], 'controls': [3231, 3252], 'SRY': [3233], 'determination': [3238], 'Microsatellite': [3240], 'contamination': [3245], 'Genome-wide': [3247], 'Evaluation': [3256], 'Possible': [3261], 'DNAs': [3265, 3274], 'Reporting': [3267], '(available': [3268], '7': [3270], 'days': [3271], 'analyzed).': [3278], 'noted': [3282], 'that,': [3283], 'depending': [3284], 'used,': [3290], 'positive': [3302], 'call,': [3303], 'assessment': [3305], 'experiment': [3308], 'carefully': [3311], 'evaluated.': [3312], 'Only': [3313], 'experiments': [3314], 'pass': [3316], 'steps': [3319], 'taken': [3322], 'into': [3323], 'consideration.': [3324], 'Molecular': [3325], 'setting,': [3340], 'know': [3346, 3401], 'So': [3369], 'once': [3370], 'again,': [3371], 'necessary': [3375], 'better': [3377], 'understand': [3378, 3429], 'what': [3379, 3397], 'fetus': [3383], 'malformation': [3388], 'life?': [3394], 'informed': [3405], 'decision': [3406], 'continue': [3408], 'interrupt': [3411], 'pregnancy.': [3413], 'contrary,': [3416], 'cytogenetics,': [3418], 'implemented': [3419], 'segregation': [3439], '(translocation,': [3448], 'insertional': [3449], 'inversion': [3451], 'rearrangement)': [3454], 'increasing': [3456], 'recurrence': [3458], 'risk.': [3459], 'conclusion,': [3461], 'act': [3466], 'substitute': [3469], 'diagnosis,': [3475], 'latter': [3478], 'irreplaceable': [3480], 'complete': [3482], 'parents.': [3490], 'work': [3492], 'represents': [3493], 'efforts': [3495], 'individuals.': [3498], 'LGS': [3499, 3558], 'thanks': [3500, 3560], 'following': [3502], 'persons': [3503], 'Laboratories': [3507], 'helpful': [3510], 'discussions': [3511, 3581], 'figures': [3515], 'illustrate': [3517], 'analysis:': [3527], 'Britt': [3528], 'Ravnan,': [3529], 'Roger': [3530], 'Schultz,': [3531], 'Beth': [3532], 'Torchia,': [3533], 'Trilochan': [3534], 'Sahoo,': [3535], 'Allen': [3536], 'Lamb,': [3537], 'Blake': [3538], 'Ballif,': [3539], 'Bassem': [3540], 'Bejjani,': [3541], 'Justine': [3542], 'Coppinger,': [3543], 'Sarah': [3544], 'Alliman,': [3545], 'Mindy': [3546], 'Preston,': [3547], 'Annie': [3548], 'Morton,': [3549], 'Anne': [3550], 'Bandholz,': [3551], 'Nicholas': [3552], 'Jill': [3555], 'Rosenfeld': [3556], 'Mokry.': [3557], 'Aaron': [3561], 'Theisen': [3562], 'Erin': [3564], 'Dodge': [3565], 'preparing': [3567], 'manuscript': [3569], 'submission.': 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