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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
  1. na = not available. a = 1 identified case out of 10,176 foetuses was inherited from a phenotypically normal mother with a low weight and patent ductus arteriosus; this case was followed up after birth. b = 1 identified case out of 10,176 foetuses had a normal phenotype; this case was followed up after birth. A total of 10,176 foetal cases were identified by amniotic fluid microdeletion microduplication analysis, of which 2906 cases were detected by CMA and 7270 cases were detected by next-generation sequencing from 2016–2019