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
|