Peds- Biochem & genetics

Question 1

Prader-Willi syndrome

Answer 1

Loss of espresso of the paternal copy of the long arm of chromosome 15q11-q13

Question 2

S&S prader-willi

Answer 2

Hyperphagia (poor sucking when younger)
Obesity 
Hypotonia 
Short stature
Hypogonadism (cryptorchidism)
Intellectual disability

Question 3

Diagnosis prader-willi

Answer 3

genetic testing

Question 4

S&S Duchenne muscular dystrophy

Answer 4

Pseudohypertrophy of calfs 
Waddling gate 
hyporeflexia 
Short stature 
Delayed milestones 
Elevated serum creatine kinase

Question 5

Complications of prader-willi

Answer 5

Sleep apnea
DM2
Gastric distention/ rupture
Death by choking

Question 6

DiGeorge CATCH-22

Answer 6

C-ardiac defect (TOF, Trunks arteriosus etc)
A-bnormal Facies 
T-hymic hypoplasia (T-cell deficiency) 
C-ranio facial deformity (C-left palet)
H-ypocalcemia 
22- chromosome 22q11.2

Question 7

Aldolase B deficiency

Answer 7

Hereditary fructose intolerance, accumulation of fructose-1-phosphate

Question 8

Diagnosis PKU

Answer 8

Tandem mass spectrometry (newborn screening)

Quantitative cammino acid analysis

Question 9

S&S PKU

Answer 9

Intelectual disabilitu
Seizures
Fair completion
Must odor

Question 10

Mangement PKU

Answer 10

low -phenylalanine diet

High-protein foods should be avoided.

Question 11

S&S aldolase B deficiency

Answer 11

Vomiting
Poorfeeding 
Lethargy 
Seizures 
Encephalopathy
After introduction of fruits & veggies to diet

Question 12

mutation of fragile x

Answer 12

trinucleotid CGG repeat expansion in the FMR1 gene

Question 13

S&S Fragile X

Answer 13

Long prominent chin and forehead 
Dysmorphic features (large ears, prominent chin)
Hypotonia 
macrocephaly 
Speech/ motor delay
Joint hyper mobility
ADHD & Autistic features

Question 14

Life prognosis of fragile X

Answer 14

Normal life expectancy