14 Questions
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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