ID Phenotype by ultrasound Chromosome Micro-deletion/duplication results and significance Size(bp) Related genes Related diseases
5
Curved fetal osteogenesis
ND
1q21.1-q21.2 deletion, chr1:146631138-147415663
0.78M
GJA5;GJA8
1q21.1recurrent microdeletion(susceptibility locus for neurodevelopmental disorders
24
FL<-3.0SD, Single umbilical artery
ND
2q35-q36.1 deletion, chr2:219247086-222436973
3.19M
EPHA4
2q35-q36.1 deletion
40
FL<-3.0SD,HL<-2.0SD
ND
Xp22.33-p21.2 deletion, chrX:2700101-30327485
27.63M
ARSE;NLGN4X;STS;ANOS1;GPR143; CLCN4;MID1;HCCS;AMELX;FRMPD4; TRAPPC2;OFD1;FANCB;PIGA;AP1S2; NHS;CDKL5;RS1;PHKA2;ADGRG2; PDHA1;RPS6KA3;CNKSR2;SMPX; MBTPS2;SMS;PHEX;PTCHD1;KLHL15; EIF2S3;PDK3;POLA1;ARX;IL1RAPL
ND
ND
Xq21.31- q28 deletion, chrX:88008410-154774942
66.77M
DIAPH2;PCDH19;SRPX2;TIMM8A; BTK;GLA;HNRNPH2;GPRASP2; PLP1;SERPINA7;PIH1D3;PRPS1; MID2;COL4A6;COL4A5;ACSL4;AMMECR1 ; CHRDL1;PAK3;DCX;ALG13;PLS3;CXorf56; UBE2A;UPF3B;RNF113A;NDUFA1;LAMP2; CUL4B;C1GALT1C1;GLUD2
ND
73
Nasal bone dysplasia
Trisomy 21
21q11.2-q22.3 Duplication, chr21:14982544-48084291
33.1M
ND
Down’s Syndrome