Genetic Disorders

Question 1

16 y/o adolescent with newly diagnosed schizophrenia has history of language delay. Patient has long narrow face, small mouth, hypernasal speech, with history of cleft palate and ventricular septal defect. Syndrome?

Answer 1

Di-George Syndrome

Question 1

Child has multiple hyperpigmented ovioid and smooth macules on the arms, chest, and back with freckling in both axillae. Mother also has macules, freckling in axilla, and optic tumor. What psychiatric symptoms does the child likely have?

Answer 1

Attention-Deficit/Hyperactivity Disorder

Question 2

Which developmental disorders are associated with the same locus of chromosome 15, but with different phenotype expression?

Answer 2

Prader-Willi and Angelman

Question 3

Genetic abnormality of velocardiofacial syndrome?

Answer 3

Gene deletion

Question 4

Child w/ tumors in brain, heart, and kidneys, seizures, intellectual disability. Likely presents with symptoms of?

Answer 4

Autism

Question 5

Psychotic adolescent with self-injurious behavior and chorea with elevated LFTs. Diagnois?

Answer 5

Wilson Disease

Question 6

16 y/o male with persistent irritability, depression and impulsivity despite many medications and therapy. On exam, patient has tremor, drooling, speech problems and brownish tinge of cornea. Screening tool?

Answer 6

24-hour urine copper test

Question 7

Diagnosis for a 14 year old adolescent with defiant behavior at home and school who presents with generalized dystonia, wing-beating action tremor in the arms and forced grin?

Answer 7

Wilson Disease

Question 8

Highly comorbid with Fragile X?

Answer 8

ADHD

Question 9

Common finding in 7 y/o with worsening vision in left eye, headaches, skin changes, father also had same skin change, edema of optic disc seen on exam?

Answer 9

Cafe Au Lait spots

Question 10

How can you determine carrier status for Fragile X syndrome for pre-pregnancy planning?

Answer 10

Southern Blot

Question 11

What is comorbid with syndrome of hypotonia, obesity, small hands, short stature, micro-orchidism, and paternal deletion of 15q11-15q13

Answer 11

Compulsions

Question 12

Child with hyperphagia, obesity, intellectual disability, aggressive behavior, and obsessive-compulsive tendencies. Result of what genetic error?

Answer 12

Deletion

Question 13

15 y/o male with intellectual disability, short, hypogonadism, low muscle tone. What other symptom may be present?

Answer 13

Hyperphagia

Question 14

What intellectual disability is most commonly associated with OCD?

Answer 14

Prader-Willi

Question 14

How do you rule out a particular condition associated with Downs Syndrome?

Answer 14

Echocardiogram

Question 15

MRI shows symmetrical basal ganglia lesions, child gets up from floor by pushing up with hands, grows progressively weaker. Diagnosis?

Answer 15

Mitochondrial disorder

Question 15

Young child with seizures, ID, port wine stain on half of face. Diagnosis?

Answer 15

Sturge-Weber Syndrome

Question 15

What has contributed to the improved ability to identify the ideology for intellectual disability?

Answer 15

Genetic factors

Question 16

17 y/o patient with malar distribution rash, macules on arms, bright lesions in cortex on MRI indicating tubers. What is the associated psych diagnosis?

Answer 16

Autism Spectrum Disorder

Question 17

Psychiatric disorders most frequently concurrent with Neurofibromatosis Type 1?

Answer 17

Autism, Depression, ADHD

Question 18

Child with ADHD having more difficulty getting up from floor to chair over past 6 months. Diagnosis?

Answer 18

Duchenne Muscular Dystrophy

Question 19

Child who repeatedly trips and sprains ankles, climbs up his legs using hands in order to stand. Diagnosis?

Answer 19

Duchenne Muscular Dystrophy

Question 20

4 y/o with limited social skills, facial angiomas, hypopigmented spot, absence seizures?

Answer 20

Tuberous Sclerosis

Question 21

To reduce intellectual disability in patients with homocystinuria, give which vitamin?

Answer 21

Vitamin B6

Question 22

Karyoptyping is still the preferred test in?

Answer 22

Trinucleotide expansion

Question 23

Genetic syndrome caused by microdeletion?

Answer 23

Williams Syndrome

Question 24

In Rett and Fragile X syndromes, what is the function of Mecp2 (methyl-CpG-binding protein)

Answer 24

Transcription

Question 25

8 y/o child with learning problems, scoliosis, various light brown spots on skin, now with increasing visual complaints, What would also be found on exam?

Answer 25

Axillary Freckling

Question 26

Adopted 3 y/o with no newborn screening, epilepsy, ID, microcephaly, fair skin, blonde, blue eyes. What is the inborn error of metabolism?

Answer 26

Phenylketonuria