Deformation lecture

Question 1

CHARGE

Answer 1

C - Coloboma
H - Heart
A - Choanal atresia
R - Growth Retardation
G - Genital abnormalities
E - Ear abnormalities

Question 2

What is a genetic consultation?

Answer 2

• Confirms, diagnoses, or rules out a genetic condition
• Identifies medical management issues
• Calculate and communicate genetic risks
• Provide or arrange for psychosocial support

Question 3

Developmental Delay

Answer 3

• Minimal physical findings
• Normal physical exam
• 5-25% of children have genetic causes

Question 4

Genetic Work up

Answer 4

• Radiographs
• Sonograms
• Imaging
• Photographs
• Consultation

Question 5

Genetic Heterogeneity

Answer 5

a phenotype is caused by multiple genes/alleles

Question 6

Pleiotropy

Answer 6

When one gene causes multiple disorders/phenotypes

Question 7

Would genetic testing HELP my patient

Answer 7

• reduces morbidity and mortality through close surveillance of high-risk individuals
• Eliminates need for extra surveillance in individuals with no increased risk
• Confirms clinical diagnosis
• Estimates recurrence risks

Question 8

Compound Heterozygosity

Answer 8

• 2 different recessive mutations, one on each allele of the same gene