Genetics Flashcards
Definition of heredity
Heredity is the transmission of traits from parent to offspring
What is genetics
Genetics is the study of heredity
What is Klinefelter’s syndrome
Klinefelter’s syndrome is when there is an extra X chromosome present leading to a karyotype of XXY. It is seen in 1 in 1000 male births and the person has a male appearance.
What are the clinical features of Klinefelter’s syndrome
Clinical features include: Reduced fertility Very tall Intellectual disability Reduced testosterone secretion Osteoporosis (weakening bones) May have breast tissue Poor growth of facial and body hair
What is turners syndrome
Turners syndrome is where there is a missing second X chromosome. It occurs in 1 in 2000 female births and the person is physically female.
What are the clinical features of turners syndrome
Underdeveloped nails Lack of breast growth due to low oestrogen Absence of normal menstrual cycle Narrowing aorta Predisposal to moles Problems with maths and spatial concepts Extra skin folds around neck Infertility (due to failure to develop ovarian tissues)
Definition of genotype
A genotype is the genes carried by an individual
Definition of a phenotype
A phenotype is the physical appearance as a result of a persons genotype
What is cystic fibrosis
Cystic fibrosis is a single gene defect characterised by thick mucus buildup in the airways and problems with calcium transport carried in 1 of 20 people. There is a 1 in 4 chance of two carries having a child with the condition.
What is albinism
Albinism is a condition where there is an insufficient melanin pigment in the skin and eyes
What are the clinical features of albinism
Pale skin, white hair, eye damage/blindness, skin cancer, pink/violet eyes
