uniparental disomy

Genomic imprinting and uniparental disomy, however, may affect inheritance patterns.

Other causes include uniparental disomy, translocation, or single gene mutation in that region.

On the other hand, an apparently normal diploid fetus may experience problems with growth or development due to the effects of uniparental disomy.

This phenomenon is called maternal uniparental disomy.

Except in certain rare circumstances (new mutations or uniparental disomy) both parents of an individual with such a disorder will be carriers of the gene.

Other less common mechanisms include; uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions.

Uniparental disomy (University of British Columbia)

Mutations in this gene were first identified in myeloid neoplasms with deletion or uniparental disomy at 4q24.

Robertsonian translocations involving chromosome 14 also carry a slight risk of uniparental disomy 14 due to trisomy rescue.

In addition to the most common kinds, there are also cryptic translocations and segmental uniparental disomy (UPD), among others.

In addition to deletions, uniparental disomy of chromosome 15 gives rise to the same genetic disorders, indicating that genomic imprinting must occur in this region.

Other names for copy-neutral LOH are acquired uniparental disomy (UPD) or gene conversion.

DNA methylation analysis is used to diagnose certain genetic disorders that are caused by disruptions of epigenetic mechanisms such as genomic imprinting and uniparental disomy.

SNP arrays, however, have an additional advantage of being able to detect copy-neutral LOH (also called uniparental disomy or gene conversion).

SNP array virtual karyotyping is preferred for tumor samples, including neuroblastomas, because they can detect copy neutral loss of heterozygosity (acquired uniparental disomy).

Loss of heterozygosity in cancer can occur either because of chromosomal deletion or somatic recombination resulting in uniparental disomy [ 37 ] .

Other patients have 'paternal uniparental disomy (UPD)' of 11p15, meaning that the maternal copy of this region is replaced with an extra paternal copy.

Autozygous segments and uniparental disomy (UPD) are diploid/'copy neutral' genetic findings and therefore are only detectable by SNP-based arrays.

Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Typically, this results when one twin has either triploidy or complete paternal uniparental disomy, resulting in little or no fetus and a cancerous, overgrown placenta, resembling a bunch of grapes.

Copy neutral LOH (acquired uniparental disomy) has been reported at key loci in ALL, such as CDKN2A gene, which have prognostic significance.

One individual with Donnai-Barrow syndrome was found to have inherited both copies of the mutated gene from his father as a result of a genetic change called uniparental disomy (UPD).

Fetal trisomy with subsequent selective chromosome loss has already been demonstrated to have significant effects on fetal well-being, and may be the initiating step in the development of disorders associated with uniparental disomy.

Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copies from the other parent.

A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent) has also been observed with the disorder.