16 Questions
What is the result of imprinting if one allele is imprinted/methylated/inactivated and the other allele is deleted?
Clinically significant conditions
What is genomic imprinting?
An epigenetic phenomenon that occurs when both maternal and paternal alleles are present during gametogenesis
What happens to imprinting in germ cells?
Imprinting is readjusted
How do imprint genes differ from non-imprinted genes?
Imprint genes are methylated and have relaxed chromatin structure, while non-imprinted genes do not
Which syndrome is characterized by severe obesity, hyperactivity, and severe mental retardation?
Prader–Willi syndrome
In Angelman syndrome, which gene is deleted and which gene is imprinted?
Paternal gene deleted, maternal gene imprinted
What is the consequence of uniparental isodisomy?
Imprinting disorder such as Prader–Willi or Angelman syndrome
Which condition can arise in a child due to uniparental disomy?
Prader–Willi syndrome
What is the alternate mechanism that may cause Angelman syndrome?
Paternal uniparental disomy
Which syndrome is characterized by fetal overgrowth, minor dysmorphisms, and an increased susceptibility to certain tumours including Wilms tumor?
Beckwith – Wiedemann syndrome
Which genetic condition results from alterations in genes that are usually expressed from just one allele, representing either the maternal or the paternal copy of the gene?
Prader–Willi syndrome
Which chromosome is involved in both Angelman and Prader – Willi syndromes?
#15
What happens in uniparental heterodisomy?
Both inherited copies of the chromosome are from the same parent but have originated in different grandparents.
What is the characteristic feature of Angelman syndrome?
Absence of speech, mild to moderate mental retardation, small hands/feet, laughing a lot, dancing gait
What is a consequence of genomic imprinting for a few specific genes?
Parent of origin determines whether or not the genes are expressed
What is the primary cause of uniparental disomy?
Meiosis I nondisjunction
Test your knowledge on genomic imprinting, uniparental disomy, and the clinical significance of allele inheritance. Learn about the impact of allele malfunction, deletion, and imprinting on genetic conditions.
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