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What disease has a build up of copper in the liver, eyes, and brain?
Wilson's Disease
The place a gene is located on a chromosome is known as:
locus
Which genetic condition causes polyps that are often cancerous to form in the colon
FAP
This genetic mutation presents as involuntary movements and progresses to severe mobile disability and behavioral changes.
Huntingtons
The expression of a gene is termed:
phenotype
Which disease presents solely in males that have an extra chromosome? (Generally they are tall and sterile),
Klinefelters
Prader willi and Angelman both affect which chromosome?
15
Mitochondrial mutations result in mutations of genetic information from who?
Mom
What genetic mutation leads to the most common muscular dystrophy disease?
Myotonic Muscular Dystrophy
Which muscular dystrophy occurs specifically in males?
Duchenne's
Familial Hypercholesteremia
Complete loss of function caused by a mutation is known as _____ mutation
Amorphic
This genetic mutation primarily causes hearing problems and the creation of tumors.
Neurofibromatosis 2
A mutation that leads to the creation of sticky mucous in the lungs and GI is commonly known as what?
Cystic Fibrosis
Someone tall and lanky who enters your clinic with elongated fingers and toes might be suspected of having what mutation?
Marfans
What is the average number of chromosome a person normally has?
46
This genetic condition involves a deficiency in something that protects neutrophil elastase
AAT
Marfan syndrome usually affects what tissue?
Connective
What are the three mutations associated with Familial Hypercholesteremia?
LDLR, APOB, PCSK9
Known for having an extra 21st chromosome, this disease also presents with GERD, hypothyrodism, and celiac's disease.
Downs Syndrome (Trisomy 21)
This disease is a mutation of the FMR1 gene. The triple repeat is CGG and it is autosomal dominant.
Fragile X Syndrome
Wilson's Disease
What are the most common types of mutations?
Amorphic and Hypomorphic
Which disease is well known for the abundance of tumors (sometimes cancerous), Lisch nodules, and changes in skin pigmentation?
Neurofibromatosis 1