Genetics Flashcards
What type of condition is Duchenne muscular dystrophy?
X-linked recessive
When one uses one hand to work up their body from the floor is called?
Gower sign
Characteristics of Duchenne muscular dystrophy?(3)
1.Elevated CK
2.occurs between the age of (4-8)
3.delayed milestone—Walking or running
What test for cystic fibrosis before pregnancy?
Preimplantation genetic diagnosis
What kind of conditions are Autosomal dominant?(3)
Neurofibromatosis
Huntington
Polycystic kidney disease
Breast cancer
What condition is Autosomal recessive?(5)
Haemochromatosis
Sickle cell Anemia
Cystic fibrosis
Thalassaemia
Congenital Adrenal hyperplasia
Characteristics of neurofibromatosis(3)
Cafe au lait spot
Axillary or groin freckle
Complicated of Polycystic kidney disease
Cerebral Aneurysm that bleeds causing subarachnoid haemorrhage
Edward syndrome is also called?
Trisomy 18
Characteristics of Edward syndrome (4)
Prominent calceneous
Prominent occipital
Microcephaly
Micrognathia(small jaw)
Another name for turner syndrome is
45X0
Characteristics of Turner syndrome (4)
Webbed neck
Short stature
Estrogen will be low(ovarian failure)
Fsh and LH will be high
What gene is associated with Alzheimer’s disease?
Apolipoprotein E (APOE)
When do you perform chorionic villi sampling?
11-14 weeks gestation
When do you perform Amniocentesis?
15-18 weeks gestation
Where is the defect of Duchenne muscle dystrophy found?
Striated muscle(Miscle fibre membrane
Affection of breast or prostate gland is related to what mutation?
BRCA 2
What is Chorea?
It is right handed involuntary writhing movement and it is related to Huntington syndrome
What are the features for Ehler Danlos syndrome?(2)
1.Hyperelasticity of skin
2.Joint hyper mobility
What is Wilson’s diseas
It is a generic disorder associating with the deposition of Copper in the body (Kayser Fleischer ring)
What is prader willi syndrome?
It is characteristic with obsessive eating so obese ,learning difficulties and growth abnormalities
Down’s syndrome is characterised by?
1.Duodenal atresia
2. Double bubble sign
Flat occipit
Characteristics of kleinfacter syndrome
Gynemastia
Hypogonadism
Tall and slim
Test is Karotyping
