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MG. MRCPsych – Questions And Correct Solutions (A+)
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MG. MRCPsych – Questions And Correct Solutions (A+)
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MG. MRCPsych – Questions And Correct Solutions (A+)Heritability of ADHD Right Ans - 74-80%
Similar in males and females
A middle aged man presents with a 2 year history of an unusual movement
disorder associated with memory problems. He denies any past psychiatric
history but does recall that one of his parents died early from a similar
movement problem. Which is the most likely diagnosis? Right Ans -
Hungtington's disease
A measure of the likelihood of two loci being within a measurable distance of
each other describes the... Right Ans - LOD score
Which of the following is used to determine the pattern of inheritance for a
trait? Right Ans - Segregation analysis. Segregation analysis is a statistical
method used to determine the pattern of inheritance of a particular trait
within a family. It involves studying how traits segregate or separate within
families across generations, hence providing insight into whether the trait is
due to genetic factors and if so, what type of inheritance pattern it follows
(autosomal dominant, autosomal recessive, X-linked, etc.).
A 17-year-old boy with a moderate learning disability and a history of
epilepsy is brought to clinic by his mother who complains that he has started
hitting family members when he gets frustrated. He is unable to explain why
he does this due to his pronounced speech impairment. During the review the
boy sits smiling, appears excited and has uplifted, flexed arms when
walking.Condition? Right Ans -
A 22-year-old girl attends the outpatient learning disability clinic with
features of depression. She is very social and has found being isolated due to
her disability very difficult. She has an abnormal facial appearance. Her verbal
skills are beyond that which you would expect given her full scale IQ. Last year
she underwent an operation due to a narrowed aorta. Her mother tells you
that she has always been very friendly and polite and has never been afraid of
strangers. Condition? Right Ans - Williams syndrome
Williams syndrome (WS) is a genetic condition caused by the deletion of
several genes on chromosome 7. This syndrome is characterized by a unique
combination of cardiovascular, developmental, and physical
,findings.Supravalvular Aortic Stenosis (SVAS): This is the most common
cardiac abnormality seen in Williams syndrome. SVAS is a narrowing of the
large blood vessel that carries blood from the heart to the rest of the body (the
aorta). This narrowing is located just above the aortic valve and can range
from mild to severe. Severe cases can lead to heart failure if left untreated.
Chr - ApoE Right Ans - 19
Chr - MAPT Right Ans - 17
What is the principal component of neurofibrillary tangles? Right Ans - tau
pyrimidines bases Right Ans - cytosine
thymine
uracil
aka single ring structures
A mutation in the SNCA gene that codes for alpha-synuclein has been linked to
the development of which of the following conditions? Right Ans -
Parkinson's disease
Codes for protein alpha-synuclein, which is found in the brain and other
tissues
Chr - HD Right Ans - 4
Chr - COMT Right Ans - 22
breaks down a class of neurotransmitters known as catecholamines in the
brain. These include dopamine, epinephrine, and norepinephrine. Variations
in this gene have been associated with a higher risk of developing
schizophrenia.
ADHD has a heritability estimate of 80%, which of the following correctly
explains what this means? Right Ans - On average 80% of the variance of
the condition in a population is due to genetic factors
The heritability estimate tells us nothing about individuals
heritability estimate MDD Right Ans - 30%
,western blotting detects... Right Ans - protein
7q11 deletion - sign of .. Right Ans - williams syndrome
'william - seven letters' - chr7
condition with mitochondrial inheritance Right Ans - Leber's hereditary
optic neuropathy
exclusively transferred from mother
A female child exhibits a progressive decline in motor and adaptive
functioning starting at the age of 16 months.. Although initially developing
some linguistic ability (limited to a few words) she had lost all speech by the
age of 2 years. You notice a hand wringing movement during examination.
Condition? Right Ans - Rett syndrome
- always female
- hand writhing movement classical
A lady with cardiac abnormalities is referred by the cardiologists in view of
psychotic experience. She is noted to have a small stature, a cleft palate, and
hyper extensible fingers. Condition? Right Ans - digeorge syndrome aka
velo cardio facial syndrome and catch22
genes abnormal in tuberous sclerosis Right Ans - TSC1 and TSC2
gene abnormal in rett syndrome Right Ans - MeCP2
TPH gene abnormal manifests as.. Right Ans - suicidal behaviour
A teenage boy is referred due to poor school performance and poor attention.
An examination revels small testicles. Condition? Right Ans - klinefelter
XXY
People affected with XXY have small testicles and a normal sized penis. There
is often breast enlargement as well.
A CT scan of a patient reveals an isolated finding of atrophy of head of caudate
nucleus. Which of the following is the most likely diagnosis? Right Ans -
huntingtons
, Amino acids are added to RNA molecules to form transfer RNA by which of the
following enzymes? Right Ans - Aminoacyl tRNA Synthetases (AARSs)
Aminoacyl tRNA Synthetases (AARSs) are a family of enzymes responsible for
adding an amino acid onto its cognate tRNA molecule. There are 21 AARS
enzymes present, one for each amino acid except lysine, which has two AARSs.
The combination of three nucleotides is referred to as a Right Ans - codon
a codon refers to a sequence of three nucleotides which together form a unit
of genetic code in a DNA or RNA molecule. Each codon corresponds to a
specific amino acid that is used in the synthesis of proteins during translation.
The genetic code is degenerate, meaning multiple codons can encode for the
same amino acid.
define intron Right Ans - Introns are non-coding sections of a gene that are
transcribed into precursor messenger RNA (pre-mRNA). They are removed or
spliced out from the pre-mRNA during the process of RNA splicing, which
takes place before the mature mRNA leaves the nucleus.
mutation - digeorge syndrome
what test? Right Ans - deletion at chromosome 22q11.2
FISH
Which of the following candidate genes for schizophrenia is located on
chromosome 1 and codes multifunctional protein that influences neuronal
development and adult brain function, including neurite architecture,
neuronal migration, intracellular transport and synaptic transmission?
Right Ans - DISC1
Chr - DTNBP1. Which condition implicated? Right Ans - 6
Schizo
Which condition would you expect Lyonization to influence the final
phenotype? Right Ans - klinefelter's XXY
It is a normal process which occurs in females (XX) as a means of individual
cells inactivating one of their X chromosomes so that their genetic information
is not duplicated. The paternal or maternal X chromosome is inactivated
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