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25-12-2015

Hemophilia is associated with:


a. X-chromosome
b. Y-chromosome
c. Chromosome 3
d. Chromosome 16

Dr. T. Gayathri Devi

Neurofibromatosis I is:
a. AD
b. AR
c. X linked recessive
d. linked dominant

Dr. T. Gayathri Devi

Which of the following is X-linked recessive?


a.G6PD deficiency
b. Neurofibromatosis
c. Thalassemia
d. Alkaptonuria

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Chance of having cystic fibrosis if only one


parent is affected and the other is normal:
a. 25%
b. 0%
c. 50%
d. 80%

AD- 50%, 1:2, 1/2


AR- 25%, 1:4, 1/4

Which of the following is inherited as


autosomal recessive form?
a. Sickle cell anemia
b. Hemophilia.
c. Hereditary spherocytosis
d. Glucose 6-PO4 dehydrogenase deficiency

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

25-12-2015

If both parents are sickle cell anemia patients,


then the likelihood of offsprings
Having the disease is:
a. 10%
b. 25%
c. 50%
d. 100%

Dr. T. Gayathri Devi

Cystic fibrosis is inherited as an autosomal


Recessive condition. A normal couple has
one daughter affected with the disease. They
are now planning to have another child. What
Is the chance of her sibling being affected
By the disease:
a. 0
b.
c.
d.
Dr. T. Gayathri Devi

Males are more commonly affected than


females in:
a. Autosomal dominant
b. Autosomal recessive
c. X-linked dominant
d. X-linked recessive

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Kinky hair disease is a disorder where an affected


child has peculiar white stubby hair, does not grow,
brain degeneration is seen and dies by age of two
years. Mrs.A is hesitant about having children
because her two sisters had sons who had died form
kinky hair disease. Her mothers brother also died of
the same condition. Which of the following is the
possible mode of inheritance in her family?
a. X-linked recessive
b. X-linked dominant
c. Autosomal recessive
d. Autosomal dominant

Dr. T. Gayathri Devi

Gauchers disease is inherited as:


a. Autosomal recessive
b. Autosomal dominant
c. X-linked recessive
d. X-linked dominant

Dr. T. Gayathri Devi

25-12-2015

The chances of having an unaffected baby,


when both parents have achondroplasia, are:
a. 0%
b. 25%
c. 50%
d. 100%

Dr. T. Gayathri Devi

A parent is homozygous and another parent is


Heterozygous for an autoscomal recessive
Gene. What will be the outcome?
a. 75% children affected
b. No child affected, but all the carriers
c. 50% children affected, rest are carriers
d. 25% children affected, rest are carriers

Dr. T. Gayathri Devi

Edwards syndrome is:


a. Trisomy 21
b. Trisomy 18
c. Trisomy 13
d. 5P

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Duchenne muscular dystrophy is inherited as:


a. X-linked
b. Autosomal dominant
c. Autosomal recessive
d. Codominant

Dr. T. Gayathri Devi

True statement about inheritances of an


X-linked recessive trait is:
a. 50% of boys of carrier mother are affected
b. 50% of girls of diseased father and carrier
c. Father transmits disease to the son
d. Mother transmits disease to the daughter

Dr. T. Gayathri Devi

25-12-2015

Multifactorial inheritance is most likely to


play a significant role in the appearance of:
a. Achondroplasia
b. Lysosomal storage disease
c. Cleft lip
d. Huntington disease

Dr. T. Gayathri Devi

The following diseases have defect in DNA


repair mechanism except for:
a. Xeroderma pigmentosa
b. Fanconi syndrome
c. Huntingtons disease
d. Hereditary non-polyposis colon cancer

Dr. T. Gayathri Devi

Which of the following is a DNA repair defect?


a. Bloom syndrome
b. Incontinentia pigmenti
c. Aplastic anemia
d. Tuberous sclerosis

Dr. T. Gayathri Devi

Gene instability associated with malignancy is


seen in:
a. Klippel-Feil syndrome
b. Ataxia-telangiectasia
c. Marfans syndrome
d. EDS

Dr. T. Gayathri Devi

DNA repair defect is associated with:


a. Xeroderma pigmentosum
b. Icthyosis
c. Angelman syndrome
d. DiGeorges syndrome

Dr. T. Gayathri Devi

In xeroderma pigmentosum, defect is in:


a. Methylation
b. Nucleotide excision repair
c. DNA replication
d. Protein folding

Dr. T. Gayathri Devi

25-12-2015

Single gene disorder which does not follow


mendelian inheritance is

Anticipation is seen in:


a. Translocation

a. Sickle cell anemia


b. Down syndrome

b. Chromosome breaking

c. Fragile X syndrome

c. Trinucleotide-repeat expansion

d. Retinoblastoma

d. Mitochondrial mutation

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

A couple has two children affected with tuberous


sclerosis. On detailed clinical and
Laboratory evaluation (including molecular
studies) both parents are normal. Which one
of the following explains the two affected
children in this family?
a. Non-penetrance
b. Uniparental disomy
c. Genomic imprinting
d. Germline mosaicism

Dr. T. Gayathri Devi

True about fragile X syndrome:


a. Triple nucleotide repeat sequence
b. Chromosome breaking
c. Mitochondrial mutation
d. Centrachrome absent

Dr. T. Gayathri Devi

Both

parents normal
number of children affected
Variant of AD
Due to new mutation in egg or sperm post
zygotically
Gametes carry mutations, somatic cells
normal
Eg Osteogenesis imperfecta, achondroplasia,
tuberous sclerosis
Variable

Dr. T. Gayathri Devi

Triple repeat
mutation
Repeatation of
triple s codons
Premutations
present
Anticipation seen
Amplification
occurs during
oogenesis

All are true about Fragile X syndrome except:


a. Large head
b. Large nose
c. Large ear
d. Large testis

Dr. T. Gayathri Devi

25-12-2015

One of the following disorders is due to


Maternal disomy of chromosome 15:
a. Prader-Willi syndrome
b. Angelman syndrome
c. Hydratidiform mole
d. Klinefelters syndrome

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Two siblings with osterogenesis imperfecta,


but their parents are normal. Mechanism of
inheritance is:
a. Anticipation
b. Genomic imprinting
c. Germ line mosaicism
d. New mutation

Dr. T. Gayathri Devi

True about genomic imprinting:


a. Differential expression of gene depending
on parent of origin
b. Prader-Will syndrome is maternal deletion
of chromosome 15
c. Angelman syndrome is due to paternal
deletion of chromosome 15
d. Uniparental disomy is other name of
genomic imprinting
Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Out

of 2 alleles- differential inactivation of


either maternal or paternal allele
Occurs in ovum or sperm before fertilisation
MECHANISM- epigenetics
By methylation of DNA or
acetylation of histones
DNA sequence un modified but
expression
Eg - Prader- Willi syndrome
Angelman syndrome
Dr. T. Gayathri Devi

25-12-2015

Genomic imprinting is seen in:


a. Prader-Willi syndrome
b. Marfan syndrome
c. EDS (Ehlers-Danlos syndrome)
d. Osteogenesis imperfecta

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Prader- Willi syndrome

Deletion of paternal
chromosome 15q12
Only imprinted
maternal allele
present
Can also be due to
maternal uniparental
disomy
Ghrelin hormone (
increases appetite)

Angelmann syndrome

Deletion of maternal
chromosome 15q12
Only imprinted
paternal allele
present
Can also be due to
paternal uniparental
disomy
Ubiquitin ligase gene
affected

Dr. T. Gayathri Devi

When a functional gene is inherited from one


parent only, the condition is known as:
a. Genomic imprinting
b. Mosaicism
c. Alleles
d. Chimerism

Dr. T. Gayathri Devi

Paternal 15 chromosome deletion is seen in:


a. Angelman syndrome
b. Prader-Willi syndrome
c. Down syndrome
d. Turner syndrome

Dr. T. Gayathri Devi

Obesity with mental retardation is seen in:


a. Prader-Willi syndrome
b.Turner syndrome
c. Fragile X syndrome
d. Noonan syndrome

Dr. T. Gayathri Devi

25-12-2015

Angelman syndrome is due to:


a. Digenic inheritance
b. Inversion
c.Uniparental disomy
d.Mitochondrial disorder

Dr. T. Gayathri Devi

NARP is a:
a. Lipid storage disorder
b. Glycogen storage disorder
c. Mitochondrial disorder
d. Lysosomal storage disorder

Dr. T. Gayathri Devi

Mitochondrial chromosomal abnormality leads


to:
a. Lebers hereditary optic neuropathy
b. angelman syndrome
c. Prader-Willi syndrome
d. Myontonic dystrophy

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Read the pedigree. Inheritance pattern of the


disease in the family is:

a. Autosomal recessive type


b. Autosomal dominant type
c. X-linked dominant type
d. X-linked recessive type

Dr. T. Gayathri Devi

Which of the following procedures are routine


technique for karyotyping using light
microscopy?
a. C-banding
b. G-banding
c. Q-banding
d. Brd V-staining

Dr. T. Gayathri Devi

25-12-2015

Microarray is:
a. Study of multiple genes
b. Study of disease
c. Study of organisms
d. Study of blood group

Dr. T. Gayathri Devi

Karyotyping is done in which phase of cell


Cyle:
a. Anaphase
b. Metaphase
c. Telophase
d. S phase

Dr. T. Gayathri Devi

Down syndrome is most commonly caused by:


a. Maternal nondisjunction
b. Paternal nondisjunction
c.Translocation
d. Mosalcism

Dr. T. Gayathri Devi

Karyotyping is done with all, except:


a. Blood lymphocyte
b. Blood monocyte
c. Amnion
d. Fibroblast

Dr. T. Gayathri Devi

Karyotyping is useful in diagnosis of:


a. Autosomal recessive disorders
b. X-linked recessive disorders
c. Chromosomal abnormalities
d. Biochemical abnormalities

Dr. T. Gayathri Devi

Down syndrome is due to:


a. Trisomy 21
b. Translocation 13-15/21
c. Translocation 22/21
d. All of the above

Dr. T. Gayathri Devi

25-12-2015

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Which is not true about down syndrome?


a. Decreased humerus length
b. Decreased nuchal fold thickness
c. Decreased femur length
d. Duodenal atresia

Dr. T. Gayathri Devi

Kilnefelter syndrome no of chromosomes:


a. 47
b. 46
c. 45
d. 44

Dr. T. Gayathri Devi

10

25-12-2015

All the following are characteristic of Turner


Syndrome except:
a. Webbing of neck
b. Cubitus valgus
c. Umbilical hernia
d. Coarctation of aorta

Dr. T. Gayathri Devi

Males who are sexually underdeveloped with


rudimentary testes and prostate glands, sparse
pubic and facial hair, long arms and legs and
Large hands and feet are likely to have the
chromosome:
a. 45, XYY
b. 46, XY
c. 47, XXY
d. 46, X

Dr. T. Gayathri Devi

In Marfans syndrome, aortic aneurysm occurs


most commonly in:
a. Ascending aorta
b. Descending aorta
c. Abdominal aorta
d. Basement membrane

Dr. T. Gayathri Devi

A nineteen-year old female which short


stature, widespread nipples and primary
amenorrhoea most likely has a karyotype of:
a. 47, XX+18
b. 46,XXY
c. 47 XXY
d. 45X

Dr. T. Gayathri Devi

Barr body is absent in:


a. Kleinefelters syndrome
b. Turners syndrome
c. Super female
d. None

Dr. T. Gayathri Devi

Osteogenesis imperfecta defect occurs in:


a. Collagen type I
b. Elastin
c. Collagen type IV
d. Basement membrane

Dr. T. Gayathri Devi

11

25-12-2015

Chromosome 22 deletion syndrome is:


a. Down syndrome
b. DiGeorge syndrome
c. Turner syndrome
d. Klinefelter syndrome

Dr. T. Gayathri Devi

False statements about fragile X syndrome is:


a. Breakage in long arm of X chromosome
b. Common genetic disorder
c. Micro-orchidism
d. Long face

Dr. T. Gayathri Devi

The following are the features of Marfans


syndrome except:
a. Arachnodactyly
b. Reduced joint mobility
c. Dislocation of the lens
d. Mitral regurgitation

Dr. T. Gayathri Devi

Hypermobility of joint and hyperelasticity


skin is seen in:
a. Marfan syndrome
b. Ehlers-Danlos syndrome
c. Fragile X-syndrome
d. Angelman syndrome

Dr. T. Gayathri Devi

Watson and Crick are associated with:


a. Discovery of helical structure of DNA
b. Association of helicobacter pylori with
chronic gastritis.
c. Discovery of HIV virus
d. None of the above

Dr. T. Gayathri Devi

Which is not a feature of Down syndrome:


a. Clinodactyly
b. Pigmented birth marks
c. Hypotonia
d. Respiratory tract Infections

Dr. T. Gayathri Devi

12

25-12-2015

A 10-year-old male, although mentally retarded, is


able to carry out activities of daily living, including
feeding and dressing himself. On physical
examination, he had branchycephaly and oblique
palpebral fissures with prominent epicanthal folds.
On the palm of each hand is seen a transverse
crease.On auscultation of the chest, there is a
grade III/IV systolic murmur. Which of the
following diseases will be most likely have by the
age of 20?
a. Acute leukemia
b. Hepatic cirrhosis
c. Acute myocardial infarction
D. Chronic renal failure
Dr. T. Gayathri Devi

Autosomal dominant gene is one which is


expressed in:
a. Homozygous state
b. Heterozygous state
c. Both
d. All of the above

Dr. T. Gayathri Devi

Chances of an offspring being affected when


one parent is autosomal dominant
heterozygote:
a. 25%
b. 50%
c. 100%
d. None of the above

Dr. T. Gayathri Devi

Mitochondrial DNA (mt-DNA) is known


for all except:
a. Maternal inheritance
b. Heteroplasmy
c. Leber hereditary optic neuropathy is the
prototype
d. Nemaline myopathy results due to
mutations in mt-DNA

Dr. T. Gayathri Devi

The following are single gene disorders except:


a. Hemochromatosis
b. Cystic fibrosis
c. Williams syndrome
d. Huntingtons disease
William syndromeDeletion of segment
of chromosome 7
conatining elastin
gene

Dr. T. Gayathri Devi

Which one of the following is due to point


mutation:
a.Color blindness
b. Sickle cell anemia
c. Diabetes
d. Porphyria

Dr. T. Gayathri Devi

13

25-12-2015

Multifactorial inheritance is known as:


a. Neurofibroma
b. Hemophilia
c. Cardiac septal defects
d. Hypophosphatemic rickets

Dr. T. Gayathri Devi

Gene involved in Rett syndrome:


a. P53
b. MECP2
c. P-16
d. BRCA

Dr. T. Gayathri Devi

The gene that regulates normal morphogenesis


during development is:
a. FMR -1 gene
b. Homeoboxgene
c. P-16
d.PTEN

Dr. T. Gayathri Devi

Inheritance pattern of ABO blood group


system is:
a. Pseudodominance
b. Autosomal dominant
c. Autosomal recessive
d. Codominance

Dr. T. Gayathri Devi

Deficiency of enzyme Hexosaminidase A


subunit causes:
a. Tay-Sachs disease
b. Hurler syndrome
c. Collagen
d. Elastin

Dr. T. Gayathri Devi

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