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
2	Absence of radius in the upper limbs of the fetus, abnormal posture of both hands	20	Trisomy 18
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

arr microarray, dup duplication, del deletion