Genetics Condition Rapidfire Flashcards
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, while others have no proven impact.
Mutations in BRCA1 or BRCA2 have a risk of […] that is about five times the normal risk, and a risk of […] that is about ten to thirty times normal.
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, while others have no proven impact.
Mutations in BRCA1 or BRCA2 have a risk of breast cancer that is about five times the normal risk, and a risk of ovarian cancer that is about ten to thirty times normal.
The risk of breast and ovarian cancer is higher for women with a high-risk BRCA1 mutation than with a BRCA2 mutation. Having a high-risk mutation does not guarantee that the woman will develop any type of cancer, or imply that any cancer that appears was actually caused by the mutation, rather than some other factor.
Down Syndrome
- Individuals are prone to early onset […]
- 80% born to mummies below 35 (despite increase risk of down syndrome as mums age.)
- […]% do not survive to term
- commonest trisomy
- Children with Down syndrome have increased risk of thyroid problems (endocrine)
Down Syndrome
- Individuals are prone to early onset dementia
- 80% born to mummies below 35 (despite increase risk of down syndrome as mums age.)
- **80% **do not survive to term
- commonest trisomy
- Children with Down syndrome have increased risk of thyroid problems (endocrine)
Down Syndrome
- Individuals are prone to early onset dementia
- 80% born to mummies below 35 (despite increase risk of down syndrome as mums age.)
- 80% do not survive to term
- commonest trisomy
- Children with Down syndrome have increased risk of […] (endocrine)
Down Syndrome
- Individuals are prone to early onset dementia
- 80% born to mummies below 35 (despite increase risk of down syndrome as mums age.)
- 80% do not survive to term
- commonest trisomy
- Children with Down syndrome have increased risk of thyroid problems (endocrine)
Type of Genetic Condition
Sickle Cell Anemia - […]
Type of Genetic Condition
Sickle Cell Anemia - AR
Type of Genetic Condition
B Thalassemia - […]
Type of Genetic Condition
B Thalassemia - AR
Type of Genetic Condition
Chronic Myeloid Leukemia - […]
Type of Genetic Condition
Chronic Myeloid Leukemia - chromosomal 9-22 translocation
BCR-ABL fusion gene~
Type of genetic condition
Cystic fibrosis - […]
Type of genetic condition
Cystic fibrosis -* AR*
Type of Genetic Condition
Down syndrome - […]
Type of Genetic Condition
Down syndrome - Trisomy 21
Type of Genetic Condition
Duchenne Muscular Dystrophy - […]
Type of Genetic Condition
Duchenne Muscular Dystrophy -* XLR (NONETHELESS, REMEMBER IT’S NOT ALWAYS MUMMY’S FAULT. 33% happens from spontaneous mutation)*
Type of Genetic Condition
G6PD deficiency - […]
Type of Genetic Condition
G6PD deficiency - XLR
Type of Genetic Condition
Huntington’s Disease - […]
Type of Genetic Condition
Huntington’s Disease - AD
Type of Genetic Condition
Klinefelter syndrome - […]
Type of Genetic Condition
Klinefelter syndrome - XXY
Type of Genetic Condition
MELAS - […]
Type of Genetic Condition
MELAS - mitochondrial
Type of Genetic Condition
Myoclonal epilepsy with ragged red fibres (MERRF) - […]
Type of Genetic Condition
Myoclonal epilepsy with ragged red fibres (MERRF) - mitochondrial
Type of Genetic Condition
Neurofibromatosis type 1 and 2 - […]
Type of Genetic Condition
Neurofibromatosis type 1 and 2 - AD
Type of Genetic Condition
Phenylketonuria - […]
Type of Genetic Condition
Phenylketonuria - AR
Type of Genetic Condition
Turner Syndrome - […]
Type of Genetic Condition
Turner Syndrome - Monosomy X
