Table 3.
CFMs fetuses with microdeletion/microduplication syndromes and other pCNVs
| 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 |
APVD anomalous pulmonary venous drainage, BPC blake’s pouch cyst, CFM craniofacial malformation, CHD complex heart disease, CL cleft lip, CLP cleft lip and palate, CMA chromosomal microarray analysis, CNV copy number variant, CP cleft palate, DWM Dandy-Walker malformation, HPE Holoprosencephaly, ICL intracranial cystic lesions, IUGR intrauterine growth retardation, LM Limb Malformations, LP likely pathogenic, LPCM low placed conus medullaris, LSVC left superior vena cava, MCDK multicystic dysplastic kidney, NA not available, NT nuchal translucency, P pathogenic, PE pericardial effusion, PFL posterior Fossa Lesions, RAE right atrial enlargement, RAA right aortic arch, RD Renal dysplasia, RVE right ventricular enlargement, SUA single umbilical artery, VOUS variant of unknown significance, VWT ventricular wall thickening, VSD ventricular septal defect; XN, XX or XY