Genetics Flashcards
Examples of autosomal dominant conditions
Autosomal dominant polycystic kidney disease Huntington's chorea Myotonic dystrophy Multiple endocrine neoplasia type 1 Marfan's Familial hypercholesterolaemia
What is the risk of passing on Autosomal dominant polycystic kidney disease from a father to their child
1 in 2
What is the chromosomal abnormality of Patau’s syndrome
Trisomy 13
What is the mode of inheritance of haemophilia?
X linked
What mode of inheritance has to Duchenne’s muscular dystrophy
X-linked
Deletion of chromosome material on the short arm of the X chromosome
Inheritance pattern of homocystinuria
Autosomal recessive
Inheritance pattern of acute intermittent porphyria
Autosomal dominant
Inheritance pattern of haemophilia and colourblindness
X-linked
Inheritance pattern of glucose 6 phosphate dehydrogenase deficiency
X linked
Inheritance pattern of hurlers syndrome
Autosomal recessive
Inheritance pattern of 21 hydroxylase deficiency
Autosomal recessive
Inheritance pattern of glycogen storage disease
Autosomal recessive
Inheritance pattern of multiple polyposis
Autosomal dominant on chromosome 4
Inheritance pattern of haemophilia A
X linked recessive
Inheritance pattern of congenital adrenal hyperplasia
Autosomal recessive
Sometimes X linked recessive
Inheritance pattern of Hypophosphataemic vitamin D resistant Ricketts
X linked dominant
Inheritance pattern of ichthyosis
Autosomal dominant
Sometimes X linked recessive
Inheritance pattern of Tay Sachs disease
Autosomal recessive
Inheritance pattern of Wiskott-Aldrich syndrome
X-linked recessive
Inheritance pattern of Hunter’s syndrome
X linked recessive
In x-linked recessive conditions which gender is affected?
Male only
In X linked dominant conditions which gender is affected?
Both are equally affected
Inheritance pattern of achondroplasia
Autosomal dominant
Inheritance pattern of huntington’s disease
Autosomal dominant
If an affected person of an autosomal recessive condition marries a normal individual, how many of their offspring will be affected and how many will be carriers?
Non-will be affected
All Will be carriers
If both parents are heterozygotes for an autosomal recessive condition how many of their offspring will be affected?
1/4
If two people with an autosomal recessive condition carry the same gene defect, what percentage of their children will be affected?
100%
If both parents are heterozygote for an autosomal recessive condition what percentage of the children will be affected, carriers or normal
25% will be affected,
50% will be carriers,
25% normal
What disease is characterised by expansions of the CGG tri-nucleotide?
Fragile X syndrome
What disease is characterised by expansions of the CAG tri-nucleotide?
Huntington disease
What disease is characterised by expansions of the CTG tri-nucleotide?
Myotonic dystrophy
Features of acromegally
Large hands and feet Macroglossia Abnormal enlargement of organs Prognathism Hypercalciuria Proximal myopathy Optic chiasm compression --> Bitemporal hemianopia
Features of Patau’s syndrome (trisomy 13)
Motor and mental retardation Microcephaly Cleft lip and palate Polydactyly Cardiac defects Low set ears Survival up to 3 weeks
What is a Barr body
The inactivated X chromosome in a female
What is multiple endocrine neoplasia type one associated with
Pituitary tumours
Parathyroid tumours
Pancreatic tumours
What is multiple endocrine neoplasia type 2 associated with
Medullary thyroid cancer
Karyotype in Klinefelter’s disease
XXY
Genetic abnormality in cri du chat syndrome
Deletion on chromosome 5p
What is gonadal dysgenesis an alternative term for
Turner’s syndrome
Karyotype in Turner’s syndrome
XO
What is brachydactyly
Short fourth metacarpal
What is di-George syndrome
Absent parathyroids
Absent thymus
Deletion on 22q
Features of acromegaly
Large hands and feet Macroglossia Abnormal organ enlargement Prognathism Hypercalciuria
Which genetic conditions demonstrate anticipation
Huntington’s chorea
Fragile x
Myotonic dystrophy
