Table 3 CFMs fetuses with microdeletion/microduplication syndromes and other pCNVs
From: Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations
Case | Craniofacial malformations | Other findings | Karyotype | Candidate Gene | Clinical significance | CMA results | Size(Mb) | Inheritance |
|---|---|---|---|---|---|---|---|---|
15 | CLP | – | 46,XN | TBX1 | P (22q11 proximal deletion syndrome) | 22q11.21(18895227_21460220)×1 | 2.56 | NA |
16 | CLP | CHD | 46,XN | TBX1 | P (22q11 proximal deletion syndrome) | 22q11.21(18895227_21445064)×1 | 2.55 | De novo |
17 | CL | RVE, RAE, APVD | 46,XN | MAKP1 | P (22q11.2 distal deletion syndrome) | 22q11.2(21798907_22762651)×1 | 0.96 | De novo |
18 | CLP | – | NA | TBX1 | P (22q11 duplication syndrome) | 22q11.2(18648855_21800471)×3 | 3.15 | Maternal |
19 | Skull defect | Anencephaly | NA | _ | P (7q11.23 duplication syndrome) | 7q11.23(72722981_74494207)×3 | 1.77 | NA |
VOUS | 14q12(25333115_26945366)×3 | 1.61 | NA | |||||
20 | CLP | – | 46,XN | PCYT1A, DLG1 | P (3q29 microdeletion syndrome) | 3q29(195678474_197340833)×1 | 1.66 | NA |
21 | Macrocephaly | Hydronephrosis | 46,XN | LHX1 | P (Rrenal cysts and diabetes syndrome) | 17q12(34462281_36249565)×1 | 1.78 | De novo |
22 | CLP | IUGR | 46,XN | _ | VOUS | 14q32.33(104871320_106251148)×1 | 1.38 | Maternal |
LP (16p11.2 microduplication syndrome) | 16p11.2(29681582_30190029)×3 | 0.51 | De novo | |||||
23 | Abnormal skull shape | Absent gallbladder, RD, PE, IUGR, HPE | NA | ZIC2 | P | 4q32.2q35.2(163980423_190880409)×3 | 26.89 | De novo |
P | 8p23.3p23.1(176818_6974050)×3 | 6.80 | De novo | |||||
P(8p23.1 duplication syndrome) | 8p23.1(8101641_11394233)×3 | 3.29 | De novo | |||||
P | 13q31.3q34(92884370_115106996)×1 | 22.22 | De novo | |||||
P | Xq26.2q28(130488944_154929412)×1 | 24.40 | De novo | |||||
24 | Abnormal skull shape | HPE | 46,XN,der(13)t(4;13)(q35;q31) | ZIC2 | P | 4q35.1q35.2(183907715_190880409)×3 | 6.97 | Paternal balanced translocation |
P | 13q31.3q34(94514343_115106996)×1 | 20.59 | ||||||
25 | CLP | VWT | 46,XN,der(13)t(13;16)(q32;q23) | ZIC2 | P | 13q32.1q34(96311577_115106996)×1 | 18.8 | Maternal balanced translocation |
P | 16q23.2q24.3(81148438_90148796)×3 | 9.00 | ||||||
26 | CL | DWM | 46,XN | SHH | P | 7p22.3p21.2(43376_15044564)×3 | 15.00 | NA |
P | 7q34q36.3(142326472_159119707)×1 | 16.79 | ||||||
27 | Abnormal skull shape, Hypotelorism, beaked nose | HPE, absent radius | 46,XN,del(7)(q34) | SHH | P | 7q34q36.3(138831707_159119486)×1 | 20.28 | De novo |
28 | Midfacial hypoplasia | BPC, Hyperechogenic kidneys, LM, LPCM | 46,XN,rec(6)dup(6q)inv(6)(p25q22) | FOXC1 | P | 6p25.3p25.1(156974_5395099)×1 | 5.24 | Maternal inversion |
P | 6q22.32q25.3(126253838_170914297)×3 | 44.66 | ||||||
29 | Microcephaly | RAA, Persistent LSVC | 45,XN,der(14)t(14;20) (p13; p11.2),-20 [17]/46,XN[17] | SNRPB, CSNK2A1 | P | 20p13p11.21(61661_21268329)×1[0.4] | 21.21 | De novo |
30 | CP | PFL, NT thickening, Omphalocele | NA | HPGD (AR) | P | 4q32.3q35.2(169998230_190880409)×1 | 20.88 | Maternal balanced translocation |
P | 6q25.3q27(158387117_170898549)×3 | 12.51 | ||||||
31 | Midfacial hypoplasia, flat nose, prominent maxilla | MCDK, VSD, Persistent LSVC, SUA | 46,XN | CREBBP | P | 11q24.1q25(122446233_134944006)×1 | 12.49 | De novo |
P | 16p13.3p13.12(105320_12986742)×3 | 12.88 | De novo | |||||
32 | Hypertelorism | ICL, Arachnoid cyst | 46,XN | FOXC1 | P | 6p25.3p25.2(1482077_2681511)×1 | 1.20 | De novo |
33 | Micrognathia | – | 46,XN | SF3B4 | P | 1q21.2(149815079_150260948)×1 | 0.44 | De novo |