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Genetics Flashcards

1
Q

Name 5 autosomal recessive disease

A 
Cystic fibrosis 
CAH (21 hydroxylase deficiency)
Thalassemia 
Sickle cell anaemia 
Wilson disease
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2
Q

Name 6 autosomal dominant diseases

A 
ADPKD
Huntington’s 
Neurofibromatosis 
BRCA gene breast ca 
Von Willebrand
Hereditary spherocytosis
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3
Q

Name 3 x linked recessive diseases

A

Duchenne
Haemophilia
G6PD

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4
Q

What does autosomal recessive mean

A

If BOTH parents arriers
25% child affected
50% to be carrier

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5
Q

Def of autosomal dominant

A

If 1 parent affected -
= 50% chance child to be affected
25% chance grandchild to be affected

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6
Q

Def of x linked recessive

A

If mother is carrier
50% chance male child is affected

If father affected
0% chance male child affected
100% chance of female carrier

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7
Q

Features of cystic fibrosis

A

AR mutation in CFTR gene
= cystic fibrosis transmembrane conductance regulator gene
== increased viscosity and thickness of body secretions

Salty skin, finer clubbing
Recurrent reproductive cough - sputum , chest infections

Long term - thick secretions block pancreatic duct - decreased protein and fat absorption - failure to thrive + fat containing stool (steatorrhoea)-DM1 from pancreatic damage

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8
Q

CF in males usually associated with

A

Congenital absence of Vas Deferens = infertility

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9
Q

Complication of CF early after birth

A

Meconium ileus

- meconium might no pass due to thickness

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10
Q

Long term complications of Cystic fibrosis

A

Diabetes
Cirrhosis
Respiratory failure
Bronchiectasis

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11
Q

Dx of cystic fibrosis + neonatal screening

A

NS - Guthrie test
- heel prick when baby is 7-10 days old
If +ve - confirm by sweat test and genetic testing for CFTR gene

If not dx as neonate
Sweat test , genetic testing for CFTR

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12
Q

Treatment of cystic fibrosis

A

No cure , ease symptoms
Azithromycin - long term lung infections
Inhaled hypertonic saline/ salbutamol
Lung transplant
Pancreatic enzyme replacement + fat soluble vitamins
Chest physio - short term benefits

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13
Q

Life expectancy in CF

A

42-50 YO
80% death due to lung problems
Common in Northern European ancestry

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14
Q

Chance of children to be affected in Cystic fibrosis

A

CF - autosomal recessive
Children -
25% affected
50% carriers

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15
Q

Important association of polycystic kidney disease

A

Cerebral aneurysm

- if ruptures can cause SAH

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16
Q

Chance of child to be affected with Polycystic kidney disease if 1 parent has the disease

A

50%

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17
Q

Features of ADPKD

A

Abdominal/flank/back pain
Hematuria
HTN - common early manifestation

Assoc with cerebral aneurysm

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18
Q

Blood pressure control in ADPKD

A

ACEi or ARBs

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19
Q

45 XO =

A

Turners syndrome

Female

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20
Q

Features of turners syndrome

A 
Learning difficulties
Infertility - ovarian dysgenesis / ovarian failure - 1ry amennorrhoea 
Short stature
Short webbed neck 
Widely spaced nipples
Impaired pubertal growth 
Bicuspid aortic valve.
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21
Q

What is NOT a RF for Turner’s syndrome

A

Advanced maternal age

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22
Q

What is used during childhood of person with turner’s syndrome

A

Growth hormone -to increase height

Oestrogen replacement therapy - enhance breast and hip development ad prevent osteoporosis

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23
Q

Deletion of some paternal chromosome 15 genes

A

Prader Willi syndrome

24
Q

Prader willi syndrome
Features
- neonatal
-childhood

A

Neo - floppy baby , almond shaped eyes, short extremities, thin upper lip and downturned mouth

Child - excessive eating (hyperphagia), obese and short, learning difficulties, self injurious behaviour, growth abnormality

25
Q

Inheritance pattern of DMD

A

X linked recessive

26
Q

Features of DMD incl age group

A 
4-8Y , boy 
Starts walking late (>/=18 months ) normal is @ 12 mo
Growers sign
Proximal muscle weak was, waste 
Waddling gait , can’t run 
Raised CK , ALT AST 
\+- resp/cardiac manifestations
27
Q

Initial test for DMD

A

CK - creatine kinase

28
Q

Investigations for dx of DMD

A

CK
Muscle biopsy
Genetic testing = obligatory after +ve muscle biopsy

29
Q

Where is the mutation defect in DMD

A

Striated muscle - dystrophin protein mutation defect

30
Q

What is Patau syndrome

Features

A

Trisomy 13
Cleft lip and palate
Small head and eyes
Polydactyly

31
Q

What is Edward syndrome

Features

A

Trisomy 18
Rocker bottom feet - prominent calcaneous
Small head and jaw
Hands clenched into fists w/ overriding fingers

32
Q

Trisomy 21 features

A 
= down’s 
Duodenal atresia
Single palmar crease
Space b/w 1st and 2nd toe
Upward slanting eyes + depressed nasal bridge 
Abnormal ear shape
Small mouth ; large tongue 
Joint laxity
33
Q

Congenital adrenal hyperplasia
Inheritance pattern
Most common form

A

Autosomal recessive

21 hydroxylase deficiency

34
Q

Features of CAH

Classic presentations

A

Cortisol deficiency +- aldosterone deficiency +- androgen excess

Ambiguous genitalia - in females
Hirsutism, early pubarche, oligomenorrhoea
Penile enlargement, hyperpigmentation - males
Salt wasting - infant males (aldosterone def)

Vomiting, wt loss, lethargy, dehydration, hypoNa, HypERkalemia
= 11 beta hydroxylase deficiency

35
Q

Cause of hirsutism early pubarche and oligomenorrhoea

In CAH

A

17 hydroxyprogesterone

- converted into androgens, testosterone, androstenedione

36
Q

Klinefelter syndrome

Features

A

47 XXY males

G FELTER

Gynecomastia
Facial hair - low
Estrogen high ;Low testosterone
Long limbs 
Tall, slim
Elevated FSH, LH
Rage - aggressive behaviour

Hypogonadism = small testes - azospermia - male infertility

37
Q

Best diagnosis of klinefelter

A

Karyotyping
= chromosomal analysis
47 XXY

38
Q

Features of Marfans syndrome

A 
Tall thin boy 
Spontaneous pneumothorax
Long extremities
Scoliosis 
Flexible joints 
Myopia
39
Q

Absent thymic shadow seen in

A

DiGeorge syndrome

40
Q

Huntington’s disease
Inheritance pattern
Early signs
Late signs

A

AD with anticipation
= sx appears earlier and earlier in next generations
Early - personality changes, self neglect, clumsiness

Progressive cognitive impairment

Later - chorea, dystocia, rigidity, dementia

41
Q

Investigating potential genetic disease

- before pregnancy

A

Pre-implantation genetic diagnosis (PGD)
- fertilisation in vitro in the lab - embryos tested for genetic abnormalities

1 or 2 unaffected embryos implanted into uterus

42
Q

Genetic investigation of week 11-14 of pregnancy

A

Chorionic villous sampling

- small placental sample tested

43
Q

Week 15-20 of pregnancy - what test done for investigation of genetic

A

Amniocentesis

44
Q

Diagnostic criteria for NF

A
  1. 6 or more cafe au lait macules
    - >.5cm in children , >1.5cm in adults
  2. 2 or more cutaneous/subcutaneous NF or 1 plexiform neurofibroma
  3. Axillary or groin freckling
  4. Optic pathway glioma
  5. 2 or more Lisch nodules (iris hamartoma on slit lamp)
  6. Bony dysplasia (sphenoid wing dysplasia, bowing of long bone +- pseudoarthrosis)
  7. 1st degree relative with NF1
45
Q

NF1 vs NF2

A

NF1 - more skin lesions
= cafe au lait, axillary, groin freckles, scoliosis,

NF2 - more CNS tumours
- bilateral acoustic neuroma, multiple intracranial schwannoma, meningiomas

46
Q

What should be done for a woman with strong family history (1st /2nd degree) of ovarian ca

(3)

A

Do pelvic US

If Unremarkable - genetic counselling for full risk assessment

If high risk - offer prophylactic saplings-oophorectomy

If there are manifestations of ovarian ca - US + CA 125 level

47
Q

Inheritance pattern of Alport syndrome

A

X linked

48
Q

Features of Alport syndrome

A

Kidney disease - hematuria, proteinuria —> (ESRD)

Hearing loss (SNHL)

Eye abnormalities

49
Q

What is the chance of a grandchild is affected in AD?

A

25%

50
Q

Strongest RF of Alzheimer’s

A

Alzheimer’s - Autosomal dominant

APOE e4 gene (APOE e4 allele)

51
Q

Inheritance pattern of Becker’s muscular dystrophy

A

X linked recessive

52
Q

Most appropriate approach to evaluate short stature (constiutional delay in growth and puberty)

A

Wrist Xray for bone age

53
Q

BRCA1 gene mutation penetrance

A

Autosomal dominant with incomplete penetrance
- 80% will develop breast ca

NF1 - complete penetrance

54
Q

A disease that is autosomal dominant with anticipation

A

Huntington’s

55
Q

Fragile X syndrome inheritance pattern

A

X linked dominant
Mother
50% will have it - male or femal e

Father affected
100% females affected

Revision (31 decks)

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