List of disease

Question 1

Osteogenesis imperfecta

Answer 1

cause: genetic disorder -> COL1A1 and COL1A2 defects
effect: bone dysplasia
presentation: multiple fractures

Question 2

Urea cycle disorders

Answer 2

Cause:

Question 3

Turner syndrome (X0)

Answer 3

Cause: female burn with only one X
effect:

Question 4

Beckwith Wiedemann Syndrome

Answer 4

Cause:
Deletion (or point mutation or uniparental disomy) to chromosome 11 short arm (11p15.5), which has imprinted genes like IGF2 (paternal), H19 (maternal)
Effect:
Overgrowth: size, macroglossia (tongue), nephro/adrenomegaly, omphalocoele, predispoition to tumors. Live pretty normal life

Question 5

Cystic fibrosis (see SF)

Answer 5

Autosomal Recessive

Question 6

DiGeorge/Velo-Cardio-Facial (VCF) Syndrome

Answer 6

cause: microdeletion 3 Mb in chromo 22
effect: Cardiac defect, abnormal face, thymic hypoplasia, cleft palate, hypocalcemia (CATCH22), autism, schizophrenia