Genetic Disorders and Phenotypes

Front

What is Fragile X syndrome?

Back

A genetic disorder caused by a mutation in the FMR1 gene, leading to developmental issues, macroorchidism in males, and features associated with autism spectrum disorder.

Front

What genetic change causes Myotonic dystrophy type 1?

Back

CTG expansion in the 3' UTR region of the DMPK gene.

Front

What are the main characteristics of Gaucher Disease?

Back

Osteopenia, splenomegaly, hepatomegaly, cytopenia, and pulmonary disease.

Front

What genetic change is associated with Friedreich's ataxia?

Back

GAA expansion in intron 1 of the FXN gene.

Front

What type of mutation causes Fragile X Tremor/Ataxia?

Back

A gain of function mutation in the FMR1 gene resulting from a CGG expansion.

Front

Define macroorchidism.

Back

An abnormal enlargement of the testes, often associated with Fragile X syndrome.

Front

What is the significance of CTG expansion in genetics?

Back

CTG expansion is a type of trinucleotide repeat expansion that can lead to disorders like Myotonic dystrophy type 1.

Front

What is splenomegaly?

Back

An enlargement of the spleen, which can be a symptom of various disorders, including Gaucher Disease.

Front

What does hepatomegaly refer to?

Back

An enlargement of the liver, often seen in metabolic disorders.

Front

What is cytopenia?

Back

A reduction in the number of blood cells, which can occur in conditions like Gaucher Disease.