Table 1 Results of cytogenetic and molecular cytogenetic analysis in the family and 10,176 fetuses (2016–2019)
From: 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies
Family member | Karyotype | Next-generation sequencing | The SNP microarray analysis | Whole exome sequencing |
|---|---|---|---|---|
I1 | na | seq[GRCh37] (1–22) × 2, (XY) × 1 | na | na |
I2 | na | seq[GRCh37] dup(4q12q13.1) (58.2–62.78 Mb) × 3, 4.58 Mb | na | na |
I3 | 46, XY | seq[GRCh37] (1–22) × 2, (XY) × 1 | na | na |
I4 | 46, XX | seq[GRCh37] (1–22,X) × 2 | na | na |
II1 | na | seq[GRCh37] dup(4q12q13.1) (58.18–62.76 Mb) × 3, 4.58 Mb | na | na |
II2 | na | seq[GRCh37] dup(4q12q13.1) (58.2–62.72 Mb) × 3, 4.52 Mb | na | na |
II3 | 46, XY | seq[GRCh37] dup(4q12q13.1) (58.18–62.76 Mb) × 3, 4.58 Mb | na | arr[GRCh37] 4q12q13.1 (58193591_62730657) × 3, 4.54 Mb |
II4 (proband) | 46, XX, dup(11) (p11.12p12) | seq[GRCh37] del(2q11.2) (97727692_98019869) × 1, 292.18 Kb, dup(11p11.12p12) (40231033_50762504) × 3, 10.53 Mb, dup(16p11.2) (28 601618_28706557) × 3, 104.94 Kb | arr[GRCh37] 11p12p11.12(40242898_50501403) × 3, 10.26 Mb | arr[GRCh37] 11p12p11.12(40242898_50589224) × 3, 10.35 Mb |
II5 | na | seq (1–22,X) × 2 | na | na |
II6/II7 | na | na | na | na |
III1 (older son) | 46, XY, dup(11) (p11.12p12)mat | seq[GRCh37] dup(4q12q13.1) (58.18 -62.76 Mb) × 3, 4.58 Mb, dup(11p11.12p12) (40.24–50.62 Mb) × 3, 10.38 Mb | arr[GRCh37] 4q12q13.1(58193591_62730657) × 3, 4.54 Mb, 11p12p11.12 (40242898_50589224) × 3, 10.35 Mb | arr[GRCh37] 4q12q13.1(58193591_62730657) × 3, 4.54 Mb 11p12p11.12(40242898_50589224) × 3, 10.35 Mb |
III2 | 46, XY | seq[GRCh37] del(2q11.2) (97716795_98019869) × 1, 303.07 Kb dup(4q12q13.1) (58152873_62734056) × 3, 4.58 Mb, del(17p11.2) (21359750_21507889) × 1, 148.14 Kb, dup(22q11.21) (18655585_18894169) × 3, 238.58 Kb | na | na |
10,176 fetuses | – | seq[GRCh37] dup 4q12q13.1(58.24–62.8 Mb) × 3, 4.56Mba seg[GRCh37] dup(16p11.2)(28.32–29.66 Mb) × 3, 1.34Mbb | na | na |