With uniparental disomy (UPD), the presence in a diploid genome of a chromosome pair derived from one genitor carries two main types of developmental risk: the inheritance of a recessive trait or the ...

To investigate the involvement of uniparental disomies (UPDs) in spontaneous abortion, the polymorphic patterns of microsatellites on each chromosome were analyzed in 164 cases of abortion.

Analysis of the molecular etiologies of SCID has led to important insights into the control of immune cell development. Most cases of SCID result from either X-linked or autosomal recessive ...

To date, most cases of uniparental disomy—having two copies of a chromosome from either mom or dad, rather than one from each—have been identified in the context of disease, but a new study from ...

BRAF V600E mutations in benign and malignant peripheral nerve sheath tumors. Background: Gain or loss of chromosome arms are frequently detected in gastrointestinal stromal tumors (GISTs), and have ...

In the February 15th issue of Genes & Development, Dr. K. John McLaughlin and colleagues report on their success in using uniparental embryonic stem cells to replace blood stem cells in mice.

A genomic analysis from 23andMe suggests that people inherit two copies of a chromosome from only one parent nearly twice as often as researchers had realized. A series of rodent experiments showed ...