Eponymous

Question 1

Which collagen abnormality leads to sensorineural deafness and renal failure?

Answer 1

Alport’s syndrome (in the X-linked form of the disease)

Question 2

Four Features of Alport’s syndrome:

Answer 2

Due to abnormality in collagen IV

Up in the Alp’s you get:
Sensorineural deafness, as your ears pop
Haematuria, after producing all the RBCs with altitude
Renal failure + Pyelonephritis, dehydrated from skiing

Question 3

What treatment options are available for those with Alport’s syndrome (rare)?

Answer 3

No effective treatment but

Renal failure- dialysis or kidney transplant
Haematuria- looking at bone marrow transplant

Question 4

What is the difference between Asperger’s syndrome and autism?

Answer 4

Asperger’s:
Is less severe than autism
Is not associated with aloneness or linguistic difficulty
Allows for more teaching of emotional understanding

Question 5

What is Bardet-Biedl syndrome?

What are it’s features?

Answer 5

Rare cause of chronic renal failure in children. 
Calyceal cysts and blunting
± retinal dystrophy
± low IQ
± hypogonadism
± obesity
±polydactyly

Question 6

What is the difference between Laurence-Moon-Biedl syndrome and Bardet-Biedl syndrome?

Answer 6

Laurence Moon syndrome lacks polydactyly

Bardot-Biedl syndrome lacks paraparesis

Question 7

How is Bardet-Biedl syndrome inherited?

Answer 7

Autosomal recessive

(Causes chronic kidney failure in children, with retinal dystrophy, polydactyly

Question 8

Batten’s syndrome is associated with death of which cells?

Answer 8

Photoreceptors and neurones (due to CLN3 gene defect)

Leads to visual loss, childhood dementia, fits, ataxia

Question 9

What movement abnormalities are seen in Batten’s syndrome?

Answer 9

(Rare, due to neuronal + photoreceptor death)

Fits
Ataxia
Spasticity
Athetosis
Dystonia

Question 10

How can Batten’s syndrome be investigated if suspected?

Answer 10

Batten’s syndrome= visual loss and movement abnormalities due to photoreceptor and neurone death

Skin biopsy
Lipopigments in lymphocytes and urine

Question 11

Becker’s muscular dystrophy has which pattern of inheritance?

Answer 11

X-linked recessive

Dystrophin gene mutation leading to semifunctionality

Question 12

What is the difference between Duchenne’s and Becker’s muscular dystrophy on a genetic level and anatomical level?

Answer 12

Duchenne’s = total loss of dystrophin functionality
muscle replaced with fibroadipose tissue

Becker’s = semi-functional dystrophin
Slower progression, later onset

Question 13

Which rare syndrome is the chief cause of macroglossia?

Answer 13

Beckwith-Wiedemann syndrome (IGF2 gene overexpression)

Question 14

What gene is over expressed in Beckwith-Wiedemann syndrome?

Answer 14

IGF2- insulin GF
Leading to 
Hypoglycaemia
Macroglossia
Macrosomia- big baby
Visceromegaly

Question 15

Overexpression of IGF2 (as in Beckwith-Wiedemann syndrome) can cause which type of tumour?

Answer 15

Embryonic tumours (known as Wilms syndrome)

Question 16

Boruneville’s disease is associated with which three main symptoms?

Answer 16

Epilepsy
Low IQ
Adenoma Sebaceum (little white spots on face)

Question 17

What is the name of the syndrome that describes hypochondria with at least 13 unexplained medical symptoms?

Answer 17

Briquet’s syndrome

Question 18

Bruton’s X-linked agammaglobulinaemia is associated with susceptibility to which type of infection?

Answer 18

Tyrosine kinase mutation leads to reduced mature B cells (and Ig)
= at risk of bacterial infections (not viral, which rely on T cells)

Question 19

What pattern of inheritance does Bruton’s agammaglobulinaemia have?

Answer 19

X-Linked

= boys getting many bacterial infections, due to tyrosine kinase mutation and lack of B cell maturity

Question 20

Which anatomical differences are seen in those with Bruton X linked Agammaglobulinaemia?

Answer 20

Lack of B cells due to tyrosine kinase mutation
So no:
Peyer's patches (intestinal lymphocytes)
Tonsils
Appendix

Question 21

How is Bruton X-linked Agammglobulinaemia treated?

Answer 21

Bone marrow transplant

= lack of mature B cells and Ig due to tyrosine kinase mutation

Question 22

What anatomical abnormality occurs in Buchanan’s syndrome?

Answer 22

Single artery supplies pulmonary and systemic vasculature, originated out of the base of the heart. Leads to cyanosis from birth, requires surgical intervention.

Question 23

What is the inheritance of Alport’s syndrome?

Answer 23

X linked- due to abnormality in collagen IV subunit
or autosomal recessive

(Sensorineural deafness, pyelonephritis, haematuria, renal failure)

Question 24

In a child who is born with a congenital abnormality whose parents are first degree cousins, what type of genetic abnormalities are more likely?

Answer 24

Autosomal recessive

Question 25

Normal trunk and head size, with shortened limbs
Long forehead, very short stature
Name the syndrome?

Answer 25

Achondroplasia

Question 26

Possible genetic testing techniques?

Answer 26

Karyotyping (for large chromosome abnormalities)

FISH- fluorescence in situ hybridisation

Array CSH- comparative genomic hybridisation