The term uniparental disomy was originally used by Eric Engel [1] in 1980. Under normal circumstances humans have 22 pairs of autosomes and 1 pair of sex chromosomes, one of each homologous pair ...

The possibility that two homologous chromosomes or chromosomal regions could be derived from only one parent in humans was suggested by Engel [1] in 1980. He proposed that it was statistically likely, ...

Homozygous mutant cells can be generated from embryonic stem (ES) cells with a single insertion of a drug-resistance marker by increasing the concentration of the selection drug. In the March Nature ...

After 20 years, a patient's family received an answer to a decades-long genetic mystery. Their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after ...

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 ...