Table 3 P/LP CNVs in 32 fetuses by CMA
No | CMA results | Categorization | Known syndromes | Dosage sensitive gene/region | OMIM gene count | Size of CNVs/kb | Inheritance |
|---|---|---|---|---|---|---|---|
1 | arr[GRCh38]Yq11.22322658726_ 26274233 × 0 | P | AZFc | / | 11 | 3616 | NA |
2 | arr[GRCh38] Yq11.223 (24889425_28231736)×0 | P | AZFc | / | 11 | 3342 | father |
3 | arr[GRCh38]Xp21.1 (31809962_31968905)× 0 | P | / | DMD | 1 | 159 | mother |
4 | arr[GRCh38]Xp22.316537109_8167604)×1 | P | STS | STS/Xp22.31 recurrent region | 4 | 1630 | NA |
5 | arr[GRCh38]1q21.1q21.2(147053151_148360058)× 3 | P | 1q21.1 recurrent microduplication | 1q21.1 recurrent region | 9 | 1812 | NA |
6 | arr[GRCh38]2p16.1p15(60148343_61784764)×3 | LP | / | / | 7 | 1636 | de novo |
7 | arr[GRCh38]3q29 (193373606_195885016)×1 | LP | / | / | 16 | 2511 | NA |
8 | arr[GRCh38]11q22.1q23.1102192300_111795977)× 3 | LP | / | / | 50 | 9606 | de novo |
9 | arr[GRCh38]16p13.11 (14799119_16364567)×1 | P | 16p13.11 recurrent microdeletion | 16p13.11 recurrent region | 14 | 1565 | mother (learning disorder) |
10 | arr[GRCh38]16p13.11p12.3 (15225421_18148856)× 3 | P | 16p13.11 recurrent microduplication | 16p13.11 recurrent region | 10 | 2923 | mother |
11 | arr[GRCh38]16p12.1 (21728879_22430686)×1 | p | Recurrent 16p12.1 microdeletion | / | 5 | 702 | father |
12 | arr[GRCh38]16p11.229401182_30178708)×3 | P | 16p11.2 microduplication syndrome | 16p11.2 recurrent region | 26 | 778 | father |
13 | arr[GRCh38]17q12(36466620_37940921)×1 | P | RCAD syndrome | HNF1B/17q12 recurrent (RCAD syndrome) region | 14 | 1474 | NA |
14 | arr[GRCh38]22q11.21(18153983_21110475)× 3 | P | 22q11 duplication syndrome | / | 45 | 2956 | mother |
15 | arr[GRCh38]11q24.3q25(130838148_132911316)×3 | LP | / | / | 2 | 2073 | de novo |
16 | arr[GRCh38]1q21.1q21.2(145605589_149034959)× 3 | P | TAR syndrome | 1q21.1 recurrent region | 27 | 3429 | father |
17–1 | arr[GRCh38]7p22.3p21.3(43377_11114826)×3 | P | / | / | 62 | 11,071 | NA |
17–2 | arr[GRCh38] 18p11.32q11.2(136227_23117390)×3 | P | / | / | 68 | 22,981 | NA |
18 | arr[GRCh38] 1q21.1q21.2(146107656_149913567)×3 | P | / | 1q21.1 recurrent region | 28 | 3806 | mother |
19 | arr[GRCh38]15q11.2(22582283_23060000)×1 | P | / | 15q11.2 recurrent region | 4 | 473 | NA |
20 | arr[GRCh38]16p13.11(14799119_16433802)×3 | P | 16p13.11 recurrent region | 14 | 1635 | NA | |
21 | arr[hg38]4q35.1q35.2(186098750–187,424,068)× 1 | LP | / | / | 5 | 1325 | pat |
22 | arr[hg38] Xp22.33 or Yp11.32(490354–1,086,978 or 579,619–1,086,822)×1 | P | Leri-Weill dyschondrostosis | SHOX | 1 | 683 | de novo |
23 | arr[GRCh38]15q24.1q24.3(74106238–77,930,504)×3 | LP | / | / | 40 | 3824 | mother |
24 | arr[GRCh38]16p13.3(35,880 _270350)×1 | P | α-Thalassemias | / | 11 | 234 | mother |
25 | arr[GRCh38] 15q15.2q15.3(43,209,432 _44249624)×1 | LP | / | / | 19 | 1040 | de novo |
26 | arr[GRCh38]20q13.12q13.2(45,427,844 _51923590)×3 | LP | / | / | 49 | 6496 | de novo |
27 | arr[GRCh38]17p13.3p11.2(150733_21615729)× 3 | P | / | / | 271 | 21,465 | NA |
28 | arr[GRCh38]17p12p11.2(16003239_20644312)×1 | P | Smith-Magenis Syndrome | FLCN、 RAI1 | 49 | 4641 | NA |
29 | arr[GRCh38]9p24.3q21.11(208455_68398884)×3 | P | / | / | 177 | 68,190 | NA |
30–1 | arr[GRCh38]5p15.33p14.3(113462_18666556)×1 | P | Cri-Du-Chat syndrome | TRIO | 55 | 18,553 | NA |
30–2 | arr[GRCh38]9p24.3p21.3(208455_21487987)×3 | P | / | / | 78 | 21,280 | NA |
31 | arr[GRCh38]8p23.3p23.2(2210719_3676067)×3 | LP | / | / | 1 | 1464 | father |
32 | arr[GRCh38]3q12.1q12.3(99170215_102964080)×1(3.794 Mb) | LP | / | / | 19 | 3794 | NA |