Paediatrics - Genetics

Question 1

What is Turner’s syndrome and some key characteristics?

Answer 1

Females having only one X chromosome

short stature, webbed neck, congential heart defects, delayed puberty, ovarian dysgensis

Question 2

What is Turner’s syndrome and some key characteristics?

Answer 2

Females having only one X chromosome

short stature, webbed neck, congential heart defects, delayed puberty, ovarian dysgensis

Question 3

What is Kleinfelter syndrome and some key characteristics?

Answer 3

XXY in males

infertility, hypogonadism, gynaecomastia, tall, long limbs, small chest

Question 4

What is Kleinfelter syndrome and some key characteristics?

Answer 4

XXY in males

infertility, hypogonadism, gynaecomastia, tall, long limbs, small chest

Question 5

Name 6 abnormalities in 21 trisomy

Answer 5

Downs syndrome
round face, protruding tongue, short stature, hypotonia, short neck, single palmar crease, congenital heart defect, learning difficulties, delayed motor milestones, T1DM, cataracts, Alzheimer’s, AVSD, leukemia, brushfield spots, epicanthal folds, Hirschprung’s, Tetrology of fallot

Question 6

What is Pradar-Wili syndrome?

Answer 6

deletion in paternally inherited chromsome 15 or maternal uniparental disomy
neonatal hypertonia, poor feeding, mental retardation, obesity, small genitalia
Imprinting

Question 7

What is Duchenne’s muscular dystrophy?

Answer 7

X-linked deletion of gene for dystrophin

Becker’s is milder form with mutations on same gene

Question 8

What is Angelmans syndrome?

Answer 8

deletion in maternally inherited chromsome 15 or paternal uniparental disomy
unprovoked laughing and clapping, mental retardation, seizures and ataxia

Question 9

What are some symptoms of Duchennes muscular dystophy?

Answer 9

waddling gait, Gower’s sign, slow and clumsy, stairs one by one

Question 10

What is Edwards syndrome?

Answer 10

trisomy 18

Question 11

Name 3 symptoms of Edwards syndrome

Answer 11

low birthweight, small mouth and chin, short sternum, flexed overlapping fingers

Question 12

What are the findings in Fragile X syndrome?

Answer 12

female - sometimes learning difficulties

male - learning difficulties, characteristic face, mitral valve prolapse, autism, hyperactivity

Question 13

How would you treat Duchenne’s?

Answer 13

physio
CPAP
corticosteroids

Question 14

What is Patau’s syndrome?

Answer 14

trisomy 13

Question 15

Name 3 symptoms of Patau’s syndrome

Answer 15

structural defects of brain, eye problems, cleft palate, cardial and renal malformations

Question 16

What is Marfan’s syndrome and how do you treat it?

Answer 16

Autosomal dominant connective tissue disorder - fibrillin
problems with heart (mitral valve prolapse), eyes (retinal detachement), skeleton (long and thin with big hands and feet, scoliosis)
Treat with beta blockers and cardiac monitoring (CXR, ECG, echo)

Question 17

What is DiGeorge’s syndrome?

Answer 17

primary immunodeficiency

test with FISH (fluroescence in situ hybridization)

Question 18

What is primary ciliary dyskinesia?

Answer 18

autosomal recessive condition where there are defects in the action of the cilia
= infertility, sinsuitis, bronchiectasis, dextrocardia

Question 19

What is Wiskott-Aldrich syndrome?

Answer 19

X linked

eczema, thrombocytopenia, immune deficiency, bloody diarrhoea

Question 20

What is X-linked agammaglobulinemia?

Answer 20

lowered B cells