Table 2 Pathogenic CNVs observed in our GDD/ID patients
Patient | CNV (del/dup) | Chr | Start (hg19) | Stop (hg19) | Size (Kb) | Known Genetic Syndrome | Patient phenotype |
|---|---|---|---|---|---|---|---|
1 | Del | 17q12 | 34,856,055 | 36,248,918 | 1392 | 17q12 deletion syndrome | GDD/ID, dysmorphic features, ataxia |
3 | Dup | Xq27.1-q27.3 | 139,283,418 | 146,699,586 | 7416 | SOX3 deletion | GDD/ID |
22q11.1-q11.21 | 17,397,498 | 18,984,519 | 1587 | Cat Eye syndrome | |||
5 | Dup | 1q41-q44 | 219,786,897 | 249,212,668 | 29,425 | 1q41–44 duplication | GDD/ID, dysmorphic signs |
6 | Dup | 16p13.13-p13.2 | 8,226,775 | 12,071,213 | 3844 | 16p13.2 deletion syndrome | GDD/ID, ASD, epilepsy, obesity |
45 | Del | 14q32.2 | 99,448,000 | 100,800,103 | 1352 | 14q32 deletion syndrome | GDD/ID, short stature, dysmorphic features |
55 | Del | 5q35.2-5q35.3 | 175,346,223 | 177,484,097 | 2137 | Sotos syndrome | Sotos syndrome, GDD/ID, dysmorphic features, language delay, obesity, CNS and renal malformation |
59 | Del | 1q21.2–21.2 | 146,501,348 | 147,911,246 | 1409 | 1q21.1 deletion syndrome | GDD/ID, dysmorphic features |
61 | Dup | 16p11.2 | 28,615,243 | 29,028,905 | 413 | 16p11.2 duplication syndrome | GDD/ID, dysmorphic features |
62 | Dup | 18p11.32–11.21 | 112,535 | 14,791,236 | 18,678 | 18p Deletion syndrome | GDD/ID, dysmorphic features |
66 | Dup | 17p11.2 | 16,777,177 | 20,239,827 | 3462 | Potocki-Lupski syndrome | GDD/ID, dysmorphic features, obesity |
67 | Del | 22q11.21 | 18,886,915 | 21,462,353 | 2575 | DiGeorge syndrome | GDD/ID, obesity, dysmorphic features |
71 | Del | 6q15q21 | 91,305,608 | 111,699,368 | 20,393 | 6q syndrome deletion | GDD/ID, dysmorphic features |
90 | Del | 4p16.1-p16.3 | 71,566 | 8,357,645 | 8286 | 4p deletion syndrome | Wolf-Hirschhorn syndrome |
91 | Del | 16p11.2 | 29,595,483 | 30,187,676 | 592 | 16p11.2 deletion syndrome | GDD/ID, language delay, dysmorphic syndrome, obesity |
106 | Del | 9p24.3-p13.1 | 46,587 | 39,179,289 | 39,132 | 9p deletion syndrome | GDD/ID, dysmorphic syndrome |
109 | Dup | 16p24.3 | 89,542,695 | 89,656,251 | 113 | 16q24.3 deletion syndrome | GDD/ID, dysmorphic features |
117 | Del | 18p11.32–11.31 | 13,034 | 4,390,081 | 4377 | 18p Deletion syndrome | GDD/ID, dysmorphic features |
118 | Del | 15q11.2-q31.1 | 23,656,946 | 28,535,266 | 4878 | Prader-Willi syndrome | GDD, hypotonia |
130 | Del | 15q11.2-q31.1 | 23,656,946 | 28,535,266 | 4878 | Prader-Willi Syndrome | GDD/ID, obesity |
136 | Del | 1p36.33-1p36.32 | 82,154 | 3,821,782 | 3739 | 1p36 deletion syndrome | GDD/ID, dysmorphic syndrome |
149 | Dup | 16p11.2 | 29,595,483 | 30,215,621 | 620 | 16p11.2 duplication syndrome | GDD/ID, short stature, deafness |
150 | Del | 7q11.23 | 73,110,603 | 73,702,525 | 592 | Williams syndrome | GDD/ID, dysmorphic syndrome |
151 | Del | Xp22.31 | 6,456,940 | 8,135,053 | 1678 | Xp22.3 microdeletion syndrome | GDD/ID, dysmorphic syndrome |
153 | Del | 7p15.3p21.1 | 18,814,931 | 23,539,546 | 4726 | Partial monosomy 7p | GDD/ID, dysmorphic syndrome |
154 | Del | 17q21.31 | 44,163,925 | 44,177,103 | 13 | 17q21.31 deletion syndrome (KANSL1 – exon 3) | GDD/ID, dysmorphic features, cardiac and genitourinary malformation |
156 | Dup | 16p12.2-p11.2 | 21,610,804 | 30,198,151 | 8587 | 16p11.2–p12.2 duplication syndrome | GDD/ID, dysmorphic features |
157 | Dup | 18p11.21–11.32 | 13,034 | 15,375,878 | 15,362 | 18p Deletion syndrome | GDD/ID, epilepsy |
160 | Del | 16p11.2 | 28,593,316 | 28,995,057 | 401 | 16p11.2 deletion syndrome | GDD/ID, dysmorphic features |
161 | Del | 22q11.21 | 18,889,490 | 21,797,812 | 2908 | DiGeorge syndrome | GDD/ID, dysmorphic features, cardiac and renal malformation |
165 | Del | 1q21.1 | 145,394,955 | 145,755,813 | 360 | 1q21.1 deletion syndrome | GDD/ID, epilepsy, dysmorphic features, forearm agenesis |
166 | Del | 4q22.2-4q24 | 94,543,233 | 107,486,817 | 12,943 | 4q deletion syndrome | GDD/ID, dysmorphic syndrome, language delay |
184 | Del | 4p16.2–16.3 | 48,283 | 5,405,805 | 5357 | 4p deletion syndrome | GDD/ID, epilepsy, cardiac malformation, dysmorphic features |
189 | Dup | 18q21.2–23 | 48,866,388 | 77,888,708 | 29,022 | 18q21q24 duplication | GDD/ID, microcephaly, epilepsy, dysmorphic features |