Genomic Imprinting and Uniparental Disomy

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What is genomic imprinting?

The different expression of genetic material due to inheritance from mother or father

When do clinically significant conditions arise in genomic imprinting?

When one allele is imprinted and the other allele is deleted

What happens to imprinting in germ cells?

It is re-imprinted

What causes different activity in gene loci based on their parental origin?

Inheritance from maternal and paternal genomes

Which condition is a result of the loss of gene expression from the normally active maternal gene copy?

Angelman syndrome

Which syndrome is associated with fetal overgrowth, minor dysmorphisms, and an increased susceptibility to certain tumors including Wilms tumor?

Beckwith-Wiedemann syndrome

What is the alternate mechanism that may cause Angelman syndrome or Prader-Willi syndrome?

Paternal uniparental disomy

In which type of uniparental disomy do two copies of the same homologue originate from the same grandparent?

Uniparental isodisomy

Which type of nondisjunction leads to heterodisomy?

Meiosis II nondisjunction

What is the consequence of uniparental disomy in relation to imprinting disorders?

Expression of specific genes depending on the parent of origin

Which condition results from a genetic deletion on the q arm of Chromosome #15?

Prader-Willi syndrome

What can cause Angelman syndrome in a female who has Prader-Willi syndrome?

Paternal uniparental disomy

What characterizes Angelman Syndrome?

Small hands/feet and laughing behavior

Which condition is characterized by severe obesity, hyperactivity, and severe mental retardation?

Prader-Willi Syndrome

Learn about genomic imprinting, uniparental disomy, and the clinical significance of allele malfunction and deletion. Understand the conditions that arise when both alleles are affected.

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