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 ...

Uniparental disomy (UPD) occurs when both copies of a chromosome, or of part of a chromosome, are derived from a single parent. When these chromosomes are different, due to a meiosis stage I error, ...

An illustration of the genetic and expression map of the PWS critical region (15q11-q13). This figure illustrates the genomic structure of the PWS critical region on chromosome 15, showing the ...

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 ...