NINJA PRITE HIGH YIELD EXAM PREP
STUDY GUIDE QUESTIONS ANSWERS
COMPLETE SOLUTION BUNDLE
●● Hypotonic infant → developmental delay, hyperphagia, tantrums (4-
yo)
Answer: Prader-Willi syndrome
●● Stereotypies, social impairment, large everted ears, macroorchidism
(teen)
Answer: Fragile X syndrome
●● 27yo female with multiple brown papular lesions, bilateral hearing
loss, limb and gait ataxia, MRI shows bilateral enhancing masses. Gene
mutation?
Answer: NF-2 (Neurofibromatosis Type 2 gene)
●● Velocardiofacial syndrome (22q11 deletion) increases risk for what
psychiatric disorder?
Answer: Schizophrenia
●● Pattern of inheritance in Huntington's disease
Answer: Autosomal dominant
,●● Most common inherited cause of intellectual disability
Answer: Fragile X syndrome
●● Child with moderate intellectual disability, visuospatial deficits,
anxiety, phobia, and highly sociable personality. Genetic disorder?
Answer: Williams syndrome (microdeletion 7q11.23)
●● Metachromatic leukodystrophy is associated with mutation in what
enzyme?
Answer: Arylsulfatase A
●● Apoptosis of cortical neurons differs from necrosis in that it
Answer: Involves expression of specific genes
●● 40-year-old man with progressive dementia and involuntary
movements; family history positive. Diagnosis?
Answer: Huntington's disease (excess CAG triplets)
●● Genetic anticipation refers to
Answer: Earlier onset or worsening of illness with each generation
●● Karyotyping analyzes what?
, Answer: Chromosomal structures
●● Acetylation of lysine residues in histones causes
Answer: Relaxation of chromatin structure
●● Three major epigenetic mechanisms
Answer: DNA methylation, histone modification, microRNAs
●● Effect of histone acetylation
Answer: Activates transcription
●● Genetic variation most often studied in GWAS
Answer: Single nucleotide polymorphisms (SNPs)
●● Cluster of alleles inherited as one unit
Answer: Haplotype
●● Genetic variant best identified by pedigree-based approach
Answer: Rare high-penetrance variants
●● 22q11.2 microdeletion syndrome associated with
Answer: Psychosis
STUDY GUIDE QUESTIONS ANSWERS
COMPLETE SOLUTION BUNDLE
●● Hypotonic infant → developmental delay, hyperphagia, tantrums (4-
yo)
Answer: Prader-Willi syndrome
●● Stereotypies, social impairment, large everted ears, macroorchidism
(teen)
Answer: Fragile X syndrome
●● 27yo female with multiple brown papular lesions, bilateral hearing
loss, limb and gait ataxia, MRI shows bilateral enhancing masses. Gene
mutation?
Answer: NF-2 (Neurofibromatosis Type 2 gene)
●● Velocardiofacial syndrome (22q11 deletion) increases risk for what
psychiatric disorder?
Answer: Schizophrenia
●● Pattern of inheritance in Huntington's disease
Answer: Autosomal dominant
,●● Most common inherited cause of intellectual disability
Answer: Fragile X syndrome
●● Child with moderate intellectual disability, visuospatial deficits,
anxiety, phobia, and highly sociable personality. Genetic disorder?
Answer: Williams syndrome (microdeletion 7q11.23)
●● Metachromatic leukodystrophy is associated with mutation in what
enzyme?
Answer: Arylsulfatase A
●● Apoptosis of cortical neurons differs from necrosis in that it
Answer: Involves expression of specific genes
●● 40-year-old man with progressive dementia and involuntary
movements; family history positive. Diagnosis?
Answer: Huntington's disease (excess CAG triplets)
●● Genetic anticipation refers to
Answer: Earlier onset or worsening of illness with each generation
●● Karyotyping analyzes what?
, Answer: Chromosomal structures
●● Acetylation of lysine residues in histones causes
Answer: Relaxation of chromatin structure
●● Three major epigenetic mechanisms
Answer: DNA methylation, histone modification, microRNAs
●● Effect of histone acetylation
Answer: Activates transcription
●● Genetic variation most often studied in GWAS
Answer: Single nucleotide polymorphisms (SNPs)
●● Cluster of alleles inherited as one unit
Answer: Haplotype
●● Genetic variant best identified by pedigree-based approach
Answer: Rare high-penetrance variants
●● 22q11.2 microdeletion syndrome associated with
Answer: Psychosis
