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.

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 ...

Before Natalie Nakles was born, before the egg from which she was conceived was even fully mature, something went slightly awry. The egg that would help form her ended up with two copies of chromosome ...

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 ...

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 ...

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 ...