All the sf (mostly weeks 1 and 2)

Front

What is Williams syndrome, DiGeorge syndrome, and WAGR syndrome an example of?

Back

Contiguous gene syndrome.

Front

What regulates vesicular traffic and SNARE assembly?

Back

Rab GTPases.

Front

What percentage of CriDuChat syndrome cases are due to unequal segregation of a translocation or recombination involving pericentric inversion in one of the parents?

Back

12 percent.

Front

What type of translocations are 95 percent of all Robertsonian translocations?

Back

Non-homologous.

Front

What model does pyloric stenosis follow?

Back

Threshold model.

Front

Define contiguous gene syndrome.

Back

A genetic condition caused by deletions or duplications of adjacent genes on a chromosome.

Front

What is the role of Rab GTPases in cellular processes?

Back

They regulate vesicular traffic and SNARE assembly.

Front

Explain the significance of de novo deletions in genetic syndromes.

Back

De novo deletions are new mutations that occur in an individual and are not inherited from parents, often leading to genetic disorders.

Front

What is a Robertsonian translocation?

Back

A type of chromosomal rearrangement involving the fusion of two acrocentric chromosomes.

Front

What does the term 'threshold model' refer to in genetics?

Back

A model suggesting that a certain threshold of genetic or environmental factors must be exceeded for a trait or disorder to manifest.