Open AccessA rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies
Author(s) -
Xiaoli Zeng,
Fang Liu,
Yunfan Xu,
Fangfang Liu
Publication year - 2022
Publication title -
ginekologia polska
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.4
H-Index - 21
eISSN - 2543-6767
pISSN - 0017-0011
DOI - 10.5603/gp.a2022.0045
Subject(s) - uniparental disomy , genetics , genomic imprinting , snp array , biology , chromosome , phenotype , imprinting (psychology) , chromothripsis , karyotype , allele , single nucleotide polymorphism , gene , genotype , dna methylation , dna , gene expression , genome instability , dna damage
Uniparental disomy (UPD) is a well-known epigenomic anomaly with both copies of a homologous pair of chromosomes (or part thereof) inherited from the same parent [1]. Unlike numerical or structural chromosomal aberrations, UPD has no effects on chromosome number or structure, thereby escaping cytogenetic detection [1, 2]. However, UPD detection could be performed by the microsatellite analysis or SNP-based chromosomal microarray analysis (CMA) method. UPD may cause diseases in humans by disrupting normal allelic expression of genes undergoing genomic imprinting, homozygosity in case of autosomal recessive traits, or mosaic aneuploidy [2]. Here we present the first case of parental UPD for chromosome 7 with a normal phenotype.