Table 1 Chromosome microduplication position and inheritance of the five pedigrees
Pedigree | Duplication position (hg19) | Size | Fetuses chromosome karyotype | OMIM genes | Inheritance | Pathogenicity contribution |
|---|---|---|---|---|---|---|
Pedigree 1 | chrX:6538,033-7,072,640 | 534.6 kb | 46, XX | HDHD1,STS | Inherited from normal mother | Likely benign VOUS |
Pedigree 2 | chrX:6538,033-7,100,181 | 562.1 kb | 46, XX | HDHD1,STS | Inherited from normal mother | Likely benign VOUS |
Pedigree 3 | chrX:6,455,151-8,135,568 | 1.6 Mb | 46, XX | HDHD1,STS, PNPLA4,VCX | Unknown | Likely benign VOUS |
Pedigree 4 | chrX:6,455,151-8,135,568 | 1.6 Mb | 46, XX | HDHD1,STS, PNPLA4,VCX | Unknown | Likely benign VOUS |
Pedigree 5 | chrX:6,455,151-8,134,649 | 1.6 Mb | 46, XX | HDHD1,STS, PNPLA4,VCX | Inherited from normal father | Likely benign VOUS |