All the sf

Front

What is hemosiderosis?

Back

A condition characterized by systemic iron overload, where hemosiderin is deposited in various organs and tissues.

Front

What genetic defect is responsible for 3% of individuals with Angelman Syndrome?

Back

Imprinting defect of the maternal critical region locus.

Front

What does CMA stand for in genetic testing?

Back

Chromosomal Microarray Analysis, which allows for detection of deletions and duplications of less than 20 kb in size.

Front

Where is the cytogenetic marker for Fragile X located?

Back

Xq27.3.

Front

What is the result of alternate resolution of quadrivalents in genetics?

Back

Two balanced sets.

Front

Define systemic iron overload.

Back

A condition where there is an excess of iron in the body, leading to potential damage in various organs.

Front

What is the significance of the Xq28 region?

Back

It is a location on the X chromosome that is associated with certain genetic disorders.

Front

Explain the term 'imprinting defect' in genetics.

Back

A genetic phenomenon where genes are expressed in a parent-of-origin-specific manner, leading to disorders when the imprinting is disrupted.

Front

What is the role of FISH in genetic analysis?

Back

Fluorescence In Situ Hybridization (FISH) is used to detect and localize the presence or absence of specific DNA sequences on chromosomes.

Front

What are balanced sets in genetics?

Back

Chromosomal arrangements where there is no gain or loss of genetic material, maintaining normal gene dosage.