Genetics

Question 1

Developmental disability ass with triple repeat genetic abnormality?

Answer 1

Fragile X

Question 2

4 yo child that was hypotonic as an infant is now demonstrating developmental delays, foraging for food and having many temper tantrums. Dx?

Answer 2

Prader- Willi syndrome

Question 3

13 yo with developmental delay, stereotyped behaviors, impaired social interactions, hyperactive behavior, large anteverted ears, hyperextensible joints, macroorchidism. Dx?

Answer 3

Fragile X

Question 4

27 yo F has multiple brown papular lesions on face, neck, shoulders that have developed over the years. Has b/l hearing loss, b/l limb and gait ataxia. MRI with gadolinium showed on test and has b/l enhancing masses. Pt is a carrier of a mutation in which gene?

Answer 4

NF 2 gene

Question 5

Adult patients with velocardiofacial syndrome (#22q11 deletion syndrome) are at substantially increased risk of developing which psych dx?

Answer 5

Schizophrenia

Question 6

Most common inherited mental retardation?

Answer 6

Fragile X

Question 7

Child presenta with moderate ID, deficits in visual spatial processing, high levels of anxiety, a phobia, and is highly sociable. Which genetic disorder?

Answer 7

Microdeletion on #7q11.23 (williams syndrome)

Question 8

Metachromatic leukodystrophy associated with mutation in a gene for which enzymes?

Answer 8

Aryl sulfatase

Question 9

Apoptosis of cortical neurons differs from necrosis in that it

Answer 9

Involves expression of specific genes

Question 10

40 yo M developed gradually progressive dementia and abnormal involuntary movements. Older brother and father have similar illness. Dx?

Answer 10

Excess CAG triplets in dna analysis

Question 11

Genetic anticipation refers to

Answer 11

Earlier onset or worsening of illness with each succeeding generation in a pedigree (with each transmission of unstable dna)

Question 12

Karyotyping is a method of genetic analysis characterized by which technique?

Answer 12

Analyzing chromosomal structures