2. Spot 1
Identify the pattern of inheritance
Name 3 conditions with similar inheritance
What is the degree of inheritance?
Which sex is affected ?
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4. Spot 2
39 year old female, 10 weeks pregnant, is concerned
about Downs Syndrome . Which antenatal tests will
you advise?
Name some other antenatal markers used?
If mother is a translocation carrier, how much is the
risk to the offspring ?
Name the associated chromosomes with tranlocation?
Recurrence risk is highest with which translocation ?
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6. Spot 3
Identify the syndrome and State the chromosomal
anomaly
What is the phenotype in this syndrome ?
Mention the cardinal features of the syndrome
Any easy outpatient OPD procedure for the diagnosis
?
What’s the male version ?
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7. Turner syndrome
45 XO
Female
Short stature, broad chest with wide
spacing of nipples,congenital
lymphedema,webbed neck,hyperconvex
nails ,ovarian dyegenesis,cubitus
vulgus,short fourth metacarpel,horse
shoe kidney,bicupid aortic valve
Buccal smear for barr body
Noonan syndrome
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8. Which syndrome has this genotype ?
What is the phenotype ?
State associated salient features.
Spot 4
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10. Male child with
mental retardation,
identify the syndrome
What is the exact locus?
What is pattern of inheritance ?
Mention any another syndrome
with similar inheritance
Spot 5
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11. Fragile X syndrome
Xq 27.3
Allelic expansion-change in the increasing size
of a particular DNA sequence from generations
to generations
Huntington disease, spinocerebellar
ataxia, myotonic dystrophy, DRPLA[dentato
rubro pallido luysian atrophy]
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12. Identify the pattern of inheritance
Name 3 conditions of similar inheritance
Which is the affected sex ?what is the risk
of getting affected in each pregnancy ?
Spot 6
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13. X – linked recessive
Hemophilia , color blindness , G6PD
deficiency , DMD, menkes kinky hair
disease, adrenoleukodystrophy
Male ,the risk is 50% for male child in each
pregnancy.
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14. Identify the syndrome
Name the pattern of inheritance
Give 1 another example of similar inheritance
What will be the risk of inheritance to
offsprings in affected males with disease
Spot 7
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15. Incontinentia pigmenti
X-linked dominant
Hypophosphatemic rickets, OTC
deficiency, Alport disease
All the daughters and none of the sons the
of an affected male have disease
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16. Identify the diagnostic technique
Name 3 syndromes in which this technique
is used for diagnosis
Spot 8
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17. FISH
Fluorescent In Situ Hybridization
Down syndrome
Prader willi syndrome
Angel man syndrome
Williams syndrome
Miller Dicker syndrome
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18. State 3 procedures for antenatal genetic
diagnosis ,also mention about the earliest
gestational age at which these tests can be
performed .
What is the risk of fetal loss ?
3 common diseases in which antenatal
diagnosis is available
Spot 9
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22. 7 year male child with hypotonia and hypogonadism
Identify the syndrome
and chromosome
involved
Name the genetic
pattern of inheritance
Which is the other
syndrome related to
the same chromosome
Spot 11
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24. Identify the
syndrome
Which metabolic
problem these
children face ?
Give three salient
features
Mention the
chromosome
involved
Spot 12
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26. Name 3 associated systems involved with 2
conditions in each.
A test you need to do prior to discharge from
hospital – at birth.
Spot 13
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28. Diagnosis
Name 5 types of
this condition
What is the urinary
test for diagnosis
Name 3
metabolites seen in
the urine
Name the main
organs involved
What are the Xray
findings called
Spot 14
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