Uniparental disomy (UPD) is an underestimated cause of autosomal recessive disorders. In this study, we aim to raise awareness about the possibility of UPD in mitochondrial disorders - where it is a hardly described event -, by functionally characterizing a novel variant in a structural subunit ...
It may appear as isodisomy, i.e. an individual has inherited two copies of a single homologue, as heterodisomy, i.e. an individual has inherited both homologues of a chromo- some pair, or as a combination of both if one or more recombinations have taken place during meiosis I. Possi-...
Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22. Blood Cells Mol Dis 2012;49:114-7.Huang YH, Tai CL, Lu YH, Wu TJ, Chen HD, Niu DM. Recessive con- genital methemoglobinemia caused by a rare ...
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q). J Med Genet 2001;38:214-5.Albrecht B, Mergenthaler S, Eggermann K, Zerres K, Passarge E, Eggermann T (2001) Uniparental isodisomy for paternal 2p and ...
Hetero- and isodisomy, imprinting and hemizygosity Two subtypes of UPD can be recognized by molecular analysis. The one is called heterodisomy (hUPD) and is defined as inheritance of both chromosomes from one parental pair. Besides there can be isodisomy (iUPD), i.e. inheritance of two co...
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutatio... OBJECTIVE: To evaluate a form of nonmendelian inheritance in a patient with retinitis pigmentosa (RP). METHODS: Direct DNA sequencing of the...
Subsequently, several patients with a similar phenotype and normal chromosomes have been reported, including two with mixed iso- and hetero-disomy as well as one with segmental UPD14. Our patient is the first with pure paternal isodisomy 14 in the absence of a translocation. We present ...
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutatio... isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II ...
Lysinuric protein intolerance (LPI) is caused by mutations in thegene at 14q11.2. Its clinical presentation includes failure to thrive, protein intolerance due to a secondary urea cycle defect, interstitial lung disease, renal tubulopathy, and immune disorders. Maternal uniparental disomy 14 (UPD...
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1 Dufourcq-Lagelouse,Rémi,Lambert,... - 《European Journal of Human Genetics》 被引量: 74发表: 1999年 Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa...