Skip to main content

Table 1 Chromosome microduplication position and inheritance of the five pedigrees

From: A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

PedigreeDuplication position (hg19)SizeFetuses chromosome karyotypeOMIM genesInheritancePathogenicity contribution
Pedigree 1chrX:6538,033-7,072,640534.6 kb46, XXHDHD1,STSInherited from normal motherLikely benign VOUS
Pedigree 2chrX:6538,033-7,100,181562.1 kb46, XXHDHD1,STSInherited from normal motherLikely benign VOUS
Pedigree 3chrX:6,455,151-8,135,5681.6 Mb46, XXHDHD1,STS, PNPLA4,VCXUnknownLikely benign VOUS
Pedigree 4chrX:6,455,151-8,135,5681.6 Mb46, XXHDHD1,STS, PNPLA4,VCXUnknownLikely benign VOUS
Pedigree 5chrX:6,455,151-8,134,6491.6 Mb46, XXHDHD1,STS, PNPLA4,VCXInherited from normal fatherLikely benign VOUS