Table 1 General data for 30 cases of fetal skeletal dysplasia, including chromosome information and microdeletion/microduplication test results
No. | Ultrasound results | Gestation (weeks) | Chromosome | Micro-deletion/duplication results and significance |
|---|---|---|---|---|
1 | Right choroid plexus cyst and left foot inversion in the fetus | 21 | Trisomy 18 | Â |
2 | Absence of radius in the upper limbs of the fetus, abnormal posture of both hands | 20 | Trisomy 18 | Â |
3 | Continuously interrupted left upper lip, broken upper alveolar bone, possible small jaw, and absent fetal femur | 25 | 46,XN | No abnormalities |
4 | Spinal fissure (isopathology), gastroschisis, double lung dysplasia, bipedal varus, left foot polydactyly | 25 | 46,XN | arr Xq26.2(133,527,188-133,533,879)×1 There is a 6.6 Kb deletion in the Xq26.2 segment of the fetal X chromosome. This fragment spans exon 4 and exon 5 of the PHF6 gene and does not correlate well with the patient’s clinical phenotype. |
5 | Bending bilateral femur, tibia and fibula, fixed knee, internal crossed flexion, and fixed foot position | 23 | 46,XN | No abnormalities |
6 | Cleft lip and palate, right kidney cystic dysplasia, bilateral foot fissure, and syndactyly, partially absent fingers of both hands | 25 | 46,XN | No abnormalities |
7 | Fetal bilateral femoral angulation deformity, fetal heart ventricular septal defect | 24 | 46,XN | 46,XN,dup(7q11.21)(64,635,655-64,947,696) × 3,46,XN,del(11p11.12)(49,009,009-49,120,197) × 1,46,XN,del(17p12)(14,099,119-15,464,828) × 1 No clear pathogenic >100Kb microdeletions/microreplications |
8 | Right foot inversion, bilateral rocker bottom feet, scoliosis, spina bifida occulta | 30 | 46,XN | No abnormalities |
9 | Fetal scoliosis, fetal bipedal varus, ventricular septal defect | 26 | 46,XN | No abnormalities |
10 | Absence of bilateral ulna and radius, absence of bilateral humerus, foot inversion, abnormal wrist joints | 24 | 46,XN | arr 2q24.3(166,914,464-166,920,459)×1 There is a 5.9Kb deletion in chromosome 2q24.3 on chromosome 2, which is not associated with a clinical phenotype. |
11 | Absence of bilateral humerus and left foot | 26 | 46,XN | No abnormalities |
12 | Only two visible metacarpal bones on the left hand and part of distal phalanx on the lateral and medial sides | 26 | 46,XN | No abnormalities |
13 | Left foot inversion, absence of right lower limb | 26 | 46,XN,21cenh+ | arr 5q35.1(170,405,440-171,071,061)×3 There is a repeat of 665 Kb fragment in the 5q35.1 segment of fetus chromosome 5, which includes 4 OMIM genes such as NPM1. The correlation with clinical phenotype is not high. |
14 | Absence of fetal fibula, foot inversion, partial absence of phalanges, absence of fingers, hand cleft deformity | 22 | 46,XN | No abnormalities |
15 | Fetal sirenomelia | 17 | 46,XN | No abnormalities |
16 | Short limbs - incomplete osteogenesis? | 23 | 46,XN | No abnormalities |
17 | Short limbs - incomplete osteogenesis | 22 | 46,XN | No abnormalities |
18 | Short limbs | 22 | 46,XN | No abnormalities |
19 | Short fetus limbs: cartilage hypoplasia? | 22 | 46,XN | No abnormalities |
20 | Short limbs, spine and vertebral ossification are not obvious: cartilage hypoplasia? | 16 | 46,XN | No abnormalities |
21 | Short limbs, ventricular septal defect | 15 | 46,XN | No abnormalities |
22 | Abnormal long bones in fetal limbs, narrow chest | 24 | 46,XN | No abnormalities |
23 | Short fetal limbs (chronic dysgenesis) | 25 | 46,XN | No abnormalities |
24 | Short limbs (cartilage hypoplasia) | 25 | 46,XN | arr 19p13.2(11,135,293-11,139,948)x, There is a deletion of 4.6 Kb fragment in the 19p13.2 segment of chromosome 19 of the fetus and there is no correlation with the patient’s clinical phenotype. |
25 | Short limbs | 21 | 46,XN | No abnormalities |
26 | Short limbs | 21 | 46,XN | No abnormalities |
27 | Short limbs | 27 | 46,XN | 46,XN,dup(2p11.2)(87,384,213-87,862,105) × 3, Polymorphism |
28 | Short limbs | 25 | 46,XN | No abnormalities |
29 | Achondroplasia | 15 | 46,XN | No abnormalities |
30 | Uneven arrangement of fetal spine, short limbs, bilateral foot inversion, small mandibular, left ventricular punctate strong echo, ventricular septal defect | 23 | 46,XN | Both chromosomes 1 and 16 have microduplications. Dup(Xq27.1)(139,911,843-140,072,771) × (2~3) Polymorphism |