10: Misc Genetics

Question 1

_____ problems are more likely to cluster in families.

Answer 1

MULTIFACTORIAL problems are more likely to cluster in families.

Question 2

Name the indications for karyotype analysis.

Answer 2

1. Suspected chromosomal problem
2. 2 major malformations
3. 1 major and 2 minor malformations
4. Ambiguous genitalia
5. Congenital heart disease
6. Hypotonia
7. Malformed stillborns and normal stillborns when etiology of demise is undetermined
8. Mental retardation
9. Growth retardation or short stature
10. Couple with 2+ SABs or infertility

Question 3

What 3 principles should be used when making decisions about the introduction or continuation of genetic tests?

Answer 3

1. ID of the genetic condition must provide a clear benefit to child.
2. A system must be in place to confirm the diagnosis.
3. Treatment and follow-up must be available.

Question 4

Name the features suggesting a genetic disorder.

Answer 4

1. Mental retardation and delays
2. Seizures with mental retardation
3. Severe hypotonia in infancy
4. Loss of developmental milestones
5. Short stature
6. FTT
7. Microcephaly
8. Dysmorphic features
9. 2+ physical malformations
10. Ambiguous genitalia
11. Pigmentary skin lesions
12. Ocular findings such as colobomas or blindness
13. Deafness

Question 5

Name the risk factors for genetic disorders.

Answer 5

1. Family hx of known genetic issues
2. Malformations
3. Mental retardation
4. Metabolic disorders
5. Delayed secondary characteristics
6. Sensory deficits
7. Progressive disorders
8. Neuromuscular disorders
9. Affective disorders (schizophrenia)
10. Birth defects
11. Developmental delays or learning problems
12. Repeated SABs or stillbirths

Question 6

Which newborn screenings are done in ALL states?

Answer 6

1. Congenital hypothyroidism
2. Sickle cell
3. Sickle-C
4. Sickle-Beta thalassemia
5. Galactosemia
6. PKU