Table 1.
Summary of the cytogenetic, SNP array, and clinical findings of our cases with 7q11.21 deletion.
| Birth | Prenatal diagnosis indications/reason of study | Follow-up outcome | ||||||||||
| Case # | Sex | Pregnancy history | Gestation age | Weight (kg) | Length (cm) | Karyotype results | SNP array results | 7q11.21 deleted size(kb) | De novo/inherited | Deleted genes on 7q11.21 | ||
| P1 | F | 46, XX | arr[GRCh37]7q11.21 (64679561-65196780)×1 (likely benign) | 517 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Fetal abdominal cystic echo, right renal parenchymal echo enhancement, circular of umbilical cord | No apparent abnormalities | ||||
| P2 | M | G4P1A1 | 40W + 2 | 4.25 | 53 | 46, XY | arr[GRCh37]7q11.21 (64612879-65148399)∗1 (VOUS) | 536 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | DS:1/246 | No apparent abnormalities |
| P3 | M | G4P1 | 38W + 1 | 2.9 | 50 | 46, XY | arr[GRCh37]7q11.21 (64612879-65148399)∗1 (VOUS) | 536 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Advanced maternal age | No apparent abnormalities |
| P4 | F | G2P1 | 38W | 3.45 | 52 | 46, XX | arr[GRCh37]7q11.21 (64612879-65148399)∗1 (VOUS) | 536 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | high risk NIPT result of chromosome 5 | No apparent abnormalities |
| P5 | F | G1P0 | 39W + 6 | 3.16 | 50 | 46, XX | arr[GRCh37]7q11.21 (64543313-65148399)∗1 (VOUS) | 605 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | DS:1/540, NIPT 13 trisomy high risk | No apparent abnormalities |
| P6 | M | G1P0 | 35W | 2.4 | 43 | 46, XY | arr[GRCh37]7q11.21 (64568823-65162169)∗1 (VOUS) | 593 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Advanced maternal age | No apparent abnormalities |
| P7 | M | G4P1 | 38W + 2 | 3.5 | 52 | 46, XY | arr[GRCh37]7q11.21 (64543313-65148399)∗1 (VOUS) | 605 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Increased NT | No apparent abnormalities |
| P8 | F | G2P0 | 41W + 1 | 3.65 | 51 | 46, XX | arr[GRCh37]7q11.21 (64612879-65148399)∗1 (VOUS) | 536 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Right kidney dysplasia in fetal ultrasound | No apparent abnormalities |
| P9 | M | G2P1 | 38W | 3.25 | 50 | 46, XY | arr[GRCh37]7q11.21 (64576417-65148399)∗1 (VOUS) | 572 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Advanced maternal age | No apparent abnormalities |
| P10 | N.A. | G3P1A1 | N.A. | N.A. | N.A. | 46, XY | arr[GRCh37]7q11.21 (64576417-65148399)∗1 (VOUS) | 572 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Fetal strephenopodia in ultrasound | terminated pregnancy |
| P11 | M | 46, XY | arr[GRCh37]7q11.21 (64679561-65196780) × 1 (likely benign); 11p11.12 (51193615-51530241) × 3 (likely benign); 11q12 (54835623-55379944) × 3 (likely benign) | 517 | Paternal inherited | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Variation of aortic arch branches in fetal ultrasound | No apparent abnormalities | ||||
| P12 | M | G1P0 | 39W + 2 | 3.85 | 49 | 46, XY | arr[GRCh37]5q35.3 (178746631-178936592)∗3 (VOUS)/arr[GRCh37]7q11.21 (64568823-65148399)∗1 (likely benign)/arr[GRCh37]Yp11.2 (7090325-7899326)∗0 (VOUS) | 580 | Paternal inherited | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Advanced maternal age | No apparent abnormalities |
| P13 | M | G2P1 | 34W + 1 | 3.1 | 48 | 46, XY | arr[GRCh37]7q11.21 (64554073-65148399)∗1 (VOUS) | 594 | Maternal inherited | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Advanced maternal age; increased NT | No apparent abnormalities |
| P14 | F | G1P0 | 39W | 3.17 | 51 | 46, XX | arr[GRCh37]2q13 (110873834-110980295)∗3 (VOUS)/arr[GRCh37]7q11.21 (64543313-65148399)∗1 (VOUS) | 605 | Maternal inherited | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | High risk NIPT result of chromosome 6 | No apparent abnormalities |
| P15 | F | G2P0 | 40W + 2 | 3.6 | 50 | 46, XX | arr[GRCh37]6q14.1 (80109532-80351666)∗3 (VOUS)/arr[GRCh37]7q11.21 (64612879-65148399)∗1 (VOUS) | 536 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Abnormal childbearing history | No apparent abnormalities |
| P16 | M | G1P0 | 40W + 5 | 3.55 | 52 | 46, XY | arr[GRCh37]2q13 (110498141-110980295)∗3 (VOUS)/arr[GRCh37]7q11.21 (64612879-65148399)∗1 (VOUS) | 536 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Retrocaval inferior vena cava in fetal ultrasound | No apparent abnormalities |
| P17 | N.A. | G2P1 | N.A. | N.A. | N.A. | 47, XN, +18 | arr (18)∗3/arr[GRCh37]4q35.2 (188411408-189618403)∗1 (VOUS)/arr[GRCh37]7q11.21 (64612879-65148399)∗1 (VOUS)/arr[GRCh37]19p12q12 (21551851-30022736)∗3 (VOUS) | 536 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Advanced maternal age | Terminated pregnancy |
| P18 | G3P1 | 46, XY | arr[GRCh37]5q35.3 (178730384-178922733)∗3 (VOUS)/arr[GRCh37]7q11.21 (64612879-65148399)∗1 (VOUS) | 536 | N.A. | INTS4L1,INTS4L2,RSL24D1P3,ZNF92 | Advanced maternal age | |||||
N.A. = not available, NIPT = noninvasive prenatal testing, NT = nuchal translucency, SNP = single nucleotide polymorphism, W = week.