What are Mitochondrial Genetic Diseases?
Mitochondrial genetic defects are passed down via cytoplasm, and may result in metabolic issues.
What is Fragile X Syndrome?
Fragile X syndrome is a genetic condition that causes intellectual disability, and a range of developmental problems.
What Diseases are Caused by Trinucleotide-Repeats?
X-linked spinal and bulbar muscular atrophy (SBMA) Fragile X syndromes of mental retardation (FRAXA and FRAXE) Myotonic dystrophy Huntington's disease Spinocerebellar ataxia type 1 (SCA1) Dentatorubral-pallidoluysian atrophy (DRPLA) TRDMode of inheritanceRepeats involvedExamples of presentationDentatorubral-pallidoluysian atrophyAutosomal dominantCAG≥49 Chromosome 12Symptom onset is…
What is Turner Syndrome?
Turner syndrome is a genetic syndrome in females due to not having two full X chromosomes.
What is Klinefelter Syndrome?
Kleinfelter syndrome is a genetic condition due to an extra X chromosome in males that may result in physical and intellectual disturbances.
What is Gaucher Disease?
Gaucher disease is a genetic disorder that results in abnormal ability of lysosomes. Type I Type II Type III
What are Mucopolysaccharidoses?
Mucopolysaccharidoses are metabolic diseases that result in an inability to metabolize glycosaminoglycans. Hurler syndrome. Hunter syndrom.
What are Glycogen Storage Diseases?
Glycogen storage diseases are disorders that cause improper storage of glycogen.
What are Trisomies?
Trisomies are chromosomal abnormalities that result in pathologic clinical outcomes.Some common trisomies include: Trisomy 8Trisomy 9Trisomy 13Trisomy 18Trisomy 21Trisomy 22
What is Down Syndrome?
Down syndrome is a chromosomal disorder (trisomy 21) that results in mental retardation.