MCQ – Medical Genetics – 1
1- Genetic counseling includes all of the following EXCEPT :
A. Recommendation of specific reproductive options
B. Assessment of the occurrence or recurrence risk
C. Discussion of the impact of the disease on the patient and family
D. Discussion of available therapies
E. Discussion of available genetic testing.
2- The following statements regarding Noonan Syndrome are false EXCEPT :
A. Is a chromosomal syndrome
B. Is an autosomal recessive disorder
C. Is called “male Turner” and only affect males
D. Aortic stenosis is the most common cardiac abnormally
E) Mutation in PTPN11 gene is associated with 50% of the cases.
3- A liver transplant may be effective in treating all of the following disorders EXCEPT :
A. Severe familial hypercholesterolemia
B. α-1 antitrypsin deficiency
C. Ornithine transcarbamylase (OTC) deficiency
D. Tyrosinemia type I
E. β-thalassemia major.
4- Choose The Best Answer
Prenatal diagnosis of congenital hypothyroidism is possible through determining :
A- Maternal levels of free T4 and TSH
B- Amniotic fluid level of Reverse T3
C- Matrenal levels of free T4 and Thyroglobulin
D- Fetal biparietal diameter
E- Frequency of fetal movement.
5- Large quantities of useful products can be produced through genetic engineering involving :
A. Bacteria containing recombinant plasmids
B. Yeast carrying foreign genes
C. Transgenic plants
D. Mammals producing substances in their milk
E. All of the above.
6- What is meant by the term imprinting :
A- Loss of heterozygosity
B- Suppression of one parental allele by the other allele
C- Downregulation of heterochromatin
D- Differential suppression of genes based on parental origin
E- Variable timely expression of clinical features.
7- Which of the following is Not a component in treatment of Homocystinuria :
A- Vitamin B6
B- Folic Acid
C- 3-Methyl Glycine
D- Vitamin B12
E- Antioxidants.
8- Peutz-Jeghers syndrome (PJS) is characterized by all of the following EXCEPT :
A- Gastrointestinal polyposis and mucocutaneous pigmentation
B- Innate cellular immunodeficiency
C- Affected individuals are at increased risk for malignancies
D- Can be diagnosed both prenatally and postnatally by molecular testing
E- It is inherited in an autosomal dominant manner.
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9- Chromosome breakage syndromes include None of the following EXCEPT :
A- Nijmegen syndrome
B- Hashimoto’s Thyroiditis
C- Shwachman syndrome
D- Rett syndrome
E- Smith-Lemli-Opitz syndrome.
10- Chediak-Higashi syndrome is characterized by the following features EXCEPT :
A- Partial albinism
B- Nystagmus
C- Megakaryocyte inclusion granules
D- Recurrent infections
E- Increased susceptibility to decelop malignant lymphoma.
11- Core signs / symptoms of Autism include the following EXCEPT :
A- Disturbed Social interactions and relationships
B- Defective verbal and nonverbal communication
C- Enhanced feelings of fear of dangerous situations.
D- Limited interests in activities or play
E- Abnormal reactions to sensory stimuli.
12- New treatments of Phenylketonuria include the following EXCEPT :
A- Neutral amino acids supplementation
B- Omega 3 & Omega 6 supplementation
C- Aspartame consumption instead of sugar
D- Biopterin cofactor
E- High-dose tyrosine supplementation.
Choose the best answer
13- Workup investigations for short stature include :
A- Measuring serum level of insulinlike growth factor-1 (IGF-I)
B- Measuring serum levels of growth hormone (GH)
C- High resolution banding karyotype
D- Measuring serum level of insulinlike growth factor-binding protein-3 (IGFBP-3)
E- All of the above.
14- The following statements about Megaloblastic anemia are correct EXCEPT :
A- It is due to impaired DNA synthesis
B- Its most common causes are cobalamin (vitamin B-12) and folate deficiencies
C- Repeated packed RBCs transfusion therapy represents the mainstay of therapy
D- Reducing homocysteine levels improves vascular outcome in affected patients
E- Zollinger-Ellison syndrome can cause megaloblastosis and anemia.
15- The following statements about Pseudogenes are wrong EXCEPT :
A- They represent evolutionary remnants of junk DNA
B- They are found exclusively in heterochromatin regions of chromosomes
C- They can take over the functions of imprinted genes
D- Some pseudogenes play a role in gene regulation and expression
E- They can be identified due to their rich content of A & T nucleotides.
Choose the best answer
16- Biochemical screening of MSUD is conducted through :
A- Assay of levels of branched chain amino acids in serum
B- Assay of levels of α-hydroxyisovalerate, lactate, pyruvate, and α-ketoglutarate in urine
C- Recognizing the characteristic maple syrup odor to the urine
D- Assay of level of alloisoleucine in serum
E- None of the above.
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17- Fetal Intrauterine growth retardation characterizes the following diseases EXCEPT :
A- Silver-Russell syndrome
B- Smith-Lemli-Opitz syndrome
C- Fetal alcohol syndrome
D- Incontinentia pigmenti
E- Placental insufficiency syndrome.
18- Imprinting underlies the pathogenesis of the following disorders EXCEPT :
A- Beckwith-Wiedemann syndrome
B- Silver-Russell syndrome
C- Crohn's disease (inflammatory bowel disease)
D- Prader-Willi syndrome
E- Angelman syndrome.
19- Which of the following functions explains the role of cystic fibrosis protein ?
A- ABC transporter protein
B- Signal transduction protein
C- Potassium channel regulator protein
D- Cell cycle regulator protein
E- None of the above.
20- Mitotic abnormalities and genome instability are found in the following diseases EXCEPT :
A- Tyrosinemia type I
B- Retinoblastoma
C- Shwachman-Diamond syndrome
D- Hutchinson-Gilford progeria syndrome
E- All of the above.
21- Reliable diagnosis of congenital CMV infection in a newborn can be done by :
A. Viral culture and isolation from any body fluid or organ system of the newborn
B. Immunoassay of CMV IgM antibodies in serum
C. Immunoassay of CMV IgG antibodies in serum
D. Immunoassay of CMV IgG and IgM antibodies in mother’s serum
E. B & C.
22- Reliable diagnosis of congenital rubella infection can be done by :
A. The presence of rubella IgM in serum of infected infants
B. Detection of rubella antibodies in serum after 6 months of age
C. Isolation of rubella virus from infected infants in the first few months of life
D. A & B & C
E. None of the above.
23- Reliable diagnosis of congenital toxoplasmosis in a newborn can be done by :
A. Immunoassay of IgM antibodies in serum
B. Immunoassay of IgG antibodies in serum
C. PCR-based detection of toxoplasma gondii DNA in urine
D. Clinical manifestations of the disease
E. All of the above.
24- Treatment of familial hepercholesterolemia includes all of the following EXCEPT :
A. LDL apheresis
B. Portacaval anastomosis
C. Bile acid sequestrants
D. Nicotinic acid (niacin)
E. Zinc supplementation.
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25- Substrate restriction approach is used in management of the following diseases EXCEPT :
A. Phenylketonuria
E. Alkaptonuria
B. β- thalassemia major
C. Tyrosinemia type I
D. G6PD deficiency.
26- Which of the following diseases is amenable to treatment with enzyme replacement therapy :
A. Fabry disease
B. Infantile-onset Pompe disease
C. Mucopolysaccharidosis type I (MPS IS)
D. Sickle cell anemia
E. Phenylketonuria.
27- New trends in genetic therapies include all of the following EXCEPT :
A. Stem cell therapy
B. DNA demethylating agents
C. Molecular chaperone therapy
D. RNA editing
E. Regulation and control of apoptosis.
28- Fibroblast growth factor receptor mutations cause all of the following disorders EXCEPT :
A. Achondroplasia
B. Hypochondroplasia
C. Pseudoachondroplasia
D. Thanatophoric dysplasia
E. Crouzon Syndrome.
29- The most common thyroid abnormality in patients with Down syndrome is :
A. Low T4 and Low TSH
B. High T4 and Low TSH
C. Normal T4 and Low TSH
D. Normal T4 and high TSH
E. Low T4 and normal TSH.
30- Reliable diagnosis of hepatorenal tyrosinemia can be attained by :
A. Measurement of plasma tyrosine level
B. Measurement of urinary tyrosine level
C. Measurement of serum NTBC level
D. Measurement of urinary succinylacetone level
E. Liver biopsy.
31- Chaperones are responsible for none of the following EXCEPT :
A. Participation in RNA splicing
B. Control of tRNA-amino acid binding
C. Regulation of protein trafficking inside the endoplasmic reticulum
D. Regulation of protein assembly and correction of protein misfolding
E. Apoptosis pathways.
32- The following statements about Xeroderma Pigmentosum are true EXCEPT :
A. 7 complementation groups corresponding to defects in the corresponding gene products are described
B. It is due to DNA repair defect
C. Patients suffer from several immunologic defects and abnormalities
D. The basic defect in XP is in nucleotide excision repair (NER)
E. The basic defect in XP is in base excision repair (BER).
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33- Proper diagnosis of Wilson disease can be attained via :
A. Detection of Kayser-Fleisher rings in the cornea
B. Liver biopsy
C. Assay of copper levels in serum and urine
D. Assay of ceruloplasmin levels in serum and urine
E. Molecular mutation analysis of the responsible gene.
34- Peroxisomal disorders include all of the following conditions EXCEPT :
A. Adrenoleukodystrophy
B. Adrenomyeloneuropathy
C. Acute intermittent porphyria
D. Zellweger syndrome
E. Hyperoxaluria type I
35- Diagnosis of Peroxisomal disorders include all the following approaches EXCEPT :
A. Assay of very long chain fatty acids in plasma
B. Assay of erythrocyte plasmalogen level
C. Assay of plasma bile-acid intermediates
D. Assay of urinary excretion of glyoxylic and glycolic acids
E. Assay of serum ferritin-binding protein level.
