Partial uniparental disomy: a recurrent genetic mechanism alternative to chromosomal deletion in malignant lymphoma

Multipoint genetic mapping with uniparental disomy data.

Uniparental disomy (UPD) refers to the presence of two copies of a chromosome from one parent and none from the other parent. In genetic studies of UPDs, many genetic markers are usually used to identify the stage of nondisjunction that leads to UPD and to uncover the associated unusual patterns of recombinations. However, genetic information in such data has not been fully utilized because of ...

Chromosomal Mosaicism and Uniparental Disomy in Prenatal Diagnosis: Clinical Implications for Genetic Counseling

Uniparental disomy: a novel mechanism for thalassemia major.

Reciprocal uniparental disomy in yeast.

In the diploid cells of most organisms, including humans, each chromosome is usually distinguishable from its partner homolog by multiple single-nucleotide polymorphisms. One common type of genetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are derived from a single parent, resulting in loss of heterozygosity for all single-nucleoti...

Myoclonus-dystonia due to maternal uniparental disomy.

BACKGROUND Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. OBJECTIVES To...