Androgen Insensitivity

Individuals with androgen insensitivity (testicular feminization, or Tfm) differentiate as female, but lack the internal […]

Balanced Rearrangement

Chromosome structure abnormalities can be either unbalanced rearrangements or balanced rearrangements. Balanced rearrangements usually do […]

Cancer genetics

Once you have a tumor cells there is just a massive accumulation of more mutations. […]

Chromosome Number Abnormalities

A genetically normal human has a maternal copy and a paternal copy of 23 different […]

Chronic Myelogenous Leukemia

Patients with Chronic Myelogenous Leukemia have undergone a translocation between chromosomes 9 and 22 to […]

Cystic Fibrosis

Cystic Fibrosis (CF) is caused by an autosomal recessive mutation of the cystic fibrosis transmembrane […]

Down Syndrome

Down Syndrome (aka trisomy 21) is one of only three thoroughly-studied viable non-mosaic autosomal disorders […]

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is untreatable, severe, deteriorative and relatively common X-linked recessive disorder caused […]

Fragile X Syndrome

Fragile X Syndrome is an X-linked mutation in FMR1, which encodes an abundant neuron protein […]

Genetic disease

The concepts of genotypes and phenotypes are a crucial context for understanding genetic disease. Genetic […]

Hemoglobinopathy

A hemoglobinopathy is any disorder of hemoglobin, the red blood cell protein which binds oxygen. […]

Huntington Disease

Huntington Disease (HD) is an autosomal dominant, late-onset, progressively neurodegenerative disorder caused by mutation of […]

Hurler Syndrome

Lysosomes are membrane-bound organelles which contain hydrolases that degrade unneeded proteins and infectious bacteria. When […]

Hyperphenylalaninemia

Hyperphenylalaninemias are enzymopathies (enzyme inactivity) and aminoacidopathies (inappropriate amino acid processing) that lead to an […]

mRNA Splicing Aberrations

Nearly all disease genes have mutant alleles which affect splicing of the mRNA, rather than […]

Mutation

A mutation is any change in the nucleotide sequence or arrangement of DNA; mutations are […]

Penis-At-Twelve Syndrome

During the mid-70s in the Dominican Republic, eighteen young girls all born around the same […]

Relative Risk

λr = (prevalence of disease in relatives of an affected person) / (prevalence of disease […]

Sickle Cell Disease

Sickle cell hemoglobin (HbS) results from a single nucleotide substitution which changes the codon of […]

Spinal Muscular Atrophy

Spinal Muscular Atrophy is the most common genetic cause of infant death, occurring in 1 […]

Tay-Sachs Disease

Lysosomes are membrane-bound organelles which contain hydrolases that degrade unneeded proteins and infectious bacteria. When […]

Thalassemia

Thalassemias are a heterogeneous group of hemoglobinopathies whereby a reduction in synthesis/stability of α or […]

Triplet Repeat Expansions

There are numerous diseases which arise from expansions in (CAG)n repeats, which encode glutamine. In […]

Trisomy 13

Trisomy 13 -- occurring in 1 in ∼20,000 births -- is one of only three […]

Trisomy 18

Trisomy 18 is one of only three thoroughly-studied viable non-mosaic autosomal disorders (the others being […]

Unbalanced Rearrangement

Chromosome structure abnormalities can be either unbalanced rearrangements or balanced rearrangements. The various kinds of […]

Uniparental Disomy

Uniparental disomy of a chromosome may arise via confined placental mosaicism, a condition where a […]

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