OSCE PEDIATRICS
GENETICS
dnbpaediatrics.blogspot.in
dnbpaediatrics.blogspot.in
Spot 1
 Identify the pattern of inheritance
 Name 3 conditions with similar inheritance
 What is the degree of inherita...
 Autosomal dominant
 NF1 , Polycystic kidney disease
,tuberous sclerosis , hereditory
spherocytosis,marfans syndrome,
os...
Spot 2
 39 year old female, 10 weeks pregnant, is concerned
about Downs Syndrome . Which antenatal tests will
you advise?...
 Chorionic villi sampling[10-12 wk],
amniocentesis[16-20 wk ],cordocentesis [20
wk]
 Triple test [2nd trimester]-low Ser...
Spot 3
 Identify the syndrome and State the chromosomal
anomaly
 What is the phenotype in this syndrome ?
 Mention the ...
 Turner syndrome
 45 XO
 Female
 Short stature, broad chest with wide
spacing of nipples,congenital
lymphedema,webbed ...
 Which syndrome has this genotype ?
 What is the phenotype ?
 State associated salient features.
Spot 4
dnbpaediatrics....
 Klinefelter syndrome
 Male
 Hypogenitalism ,hypogonadism ,tall stature
,mental retardation and behavior concerns-
aggr...
 Male child with
mental retardation,
 identify the syndrome
 What is the exact locus?
 What is pattern of inheritance ...
 Fragile X syndrome
 Xq 27.3
 Allelic expansion-change in the increasing size
of a particular DNA sequence from generat...
 Identify the pattern of inheritance
 Name 3 conditions of similar inheritance
 Which is the affected sex ?what is the ...
 X – linked recessive
 Hemophilia , color blindness , G6PD
deficiency , DMD, menkes kinky hair
disease, adrenoleukodystr...
 Identify the syndrome
 Name the pattern of inheritance
 Give 1 another example of similar inheritance
 What will be t...
 Incontinentia pigmenti
 X-linked dominant
 Hypophosphatemic rickets, OTC
deficiency, Alport disease
 All the daughter...
 Identify the diagnostic technique
 Name 3 syndromes in which this technique
is used for diagnosis
Spot 8
dnbpaediatrics...
 FISH
Fluorescent In Situ Hybridization
 Down syndrome
 Prader willi syndrome
 Angel man syndrome
 Williams syndrome
...
 State 3 procedures for antenatal genetic
diagnosis ,also mention about the earliest
gestational age at which these tests...
 Amniocentesis –15-16 week of gestation
Chorionic villi sampling –10 12 wks
Cordocentesis –20 wks
Skin biopsy ,liver biop...
 Name 3 vectors used in gene therapy
 State 3 candidate diseases (with single gene
defects) for gene therapy
Spot 10
dnb...
 Retrovirus ,adenovirus , adeno associated
virus , naked DNA
 Any chromosomal anomalies ,Severe
combined immunodeficienc...
7 year male child with hypotonia and hypogonadism
 Identify the syndrome
and chromosome
involved
 Name the genetic
patte...
 Prader willi syndrome ,chromosome 15
 Genetic imprinting / uniparental dizomy
 Angelman syndrome
dnbpaediatrics.blogsp...
 Identify the
syndrome
 Which metabolic
problem these
children face ?
 Give three salient
features
 Mention the
chromo...
 Beckwith-Wiedemann syndrome
 Hypoglycemia
 LGA, macroglossia, earlobe
crease, visceromegaly
 Chromosome 11p
dnbpaedia...
Name 3 associated systems involved with 2
conditions in each.
A test you need to do prior to discharge from
hospital – a...
 Eyes – cataract, Brushfield spots, myopia,
nystagmus
 Cardiac – Endocardial cushion defect, VSD,
PDA,
 GIT – Duodenal ...
 Diagnosis
 Name 5 types of
this condition
 What is the urinary
test for diagnosis
 Name 3
metabolites seen in
the uri...
 Mucopolysaccharidosis
 Hunter, Hurler, Scheie, Sanfillipo,
Matoteaux Lamy, Morquio, Sly
 Urine electrophoresis
 Derma...
 Diagnosis
 Inheritance
 Incidence of
next sib with
same problem
 Which sex is
involved
Spot 15
dnbpaediatrics.blogspo...
 Tuberous sclerosis
 Autosomal recessive
 25%
 Both, equal chances
dnbpaediatrics.blogspot.in
 Name 3 drugs contraindicated in pregnancy
 Name 3 drug related syndromes with one
associated feature each.
Spot 16
dnbp...
 Alcohol, Warfarin, Valproate, Phenytoin, Methotr
exate, retinoic acid, Lithium
 Fetal alcohol – IUGR, Microcephaly, sma...
•Diagnosis
•Name 2 more conditions with
•similar features
Spot 17
dnbpaediatrics.blogspot.in
 Cockaynes syndrome
 Progeria, Wiedeman Syndrome, Werner
syndrome, Rothmund thompson
dnbpaediatrics.blogspot.in
 Name the abnormality
 Name 2 syndromes with
this feature
 Which other organ
systems would you test
Spot 18
dnbpaediatr...
 Bilateral Cleft lip
 Trisomy 13, Cleft lip sequence, fetal
hydantoin, Holoprosencephaly, CHARGE,
Trisomy 18
 All midli...
 Diagnosis
 Name 2 more
conditions with
such features
 2 organ systems
for testing
Spot 19
dnbpaediatrics.blogspot.in
 Proteus syndrome, Maffucis, focal
Hemihypertrophy
 Maffucis, Klippel trenauney syndrome,
Proteus
 Skeletal, brain, ski...
 Diagnosis
 Direct Cause
 Underlying
pathology
 2 other tell
tale signs
Spot 20
dnbpaediatrics.blogspot.in
 Club foot, eqino varus, amniotic band
sequence, arthogryposis sequence
 Decreased fetal movements in utero
 Congenital...
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Genetic

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Genetic

  1. 1. OSCE PEDIATRICS GENETICS dnbpaediatrics.blogspot.in dnbpaediatrics.blogspot.in
  2. 2. Spot 1  Identify the pattern of inheritance  Name 3 conditions with similar inheritance  What is the degree of inheritance?  Which sex is affected ? dnbpaediatrics.blogspot.in
  3. 3.  Autosomal dominant  NF1 , Polycystic kidney disease ,tuberous sclerosis , hereditory spherocytosis,marfans syndrome, osteogenesis imperfecta.  50%  Either sex. dnbpaediatrics.blogspot.in
  4. 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 ? dnbpaediatrics.blogspot.in
  5. 5.  Chorionic villi sampling[10-12 wk], amniocentesis[16-20 wk ],cordocentesis [20 wk]  Triple test [2nd trimester]-low Serum alpha feto protein, low unconjugated estradiol, high levels of human chorionic gonadotropin.Fetal USG-Increased nuchal fold thickness,short femora.  10-15 %  14,15,21,22  21q/21q [100%] dnbpaediatrics.blogspot.in
  6. 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 ? dnbpaediatrics.blogspot.in
  7. 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 dnbpaediatrics.blogspot.in
  8. 8.  Which syndrome has this genotype ?  What is the phenotype ?  State associated salient features. Spot 4 dnbpaediatrics.blogspot.in
  9. 9.  Klinefelter syndrome  Male  Hypogenitalism ,hypogonadism ,tall stature ,mental retardation and behavior concerns- aggressive behavior, antisocial acts, learning difficulties, anxiety dnbpaediatrics.blogspot.in
  10. 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 dnbpaediatrics.blogspot.in
  11. 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] dnbpaediatrics.blogspot.in
  12. 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 dnbpaediatrics.blogspot.in
  13. 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. dnbpaediatrics.blogspot.in
  14. 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 dnbpaediatrics.blogspot.in
  15. 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 dnbpaediatrics.blogspot.in
  16. 16.  Identify the diagnostic technique  Name 3 syndromes in which this technique is used for diagnosis Spot 8 dnbpaediatrics.blogspot.in
  17. 17.  FISH Fluorescent In Situ Hybridization  Down syndrome  Prader willi syndrome  Angel man syndrome  Williams syndrome  Miller Dicker syndrome dnbpaediatrics.blogspot.in
  18. 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 dnbpaediatrics.blogspot.in
  19. 19.  Amniocentesis –15-16 week of gestation Chorionic villi sampling –10 12 wks Cordocentesis –20 wks Skin biopsy ,liver biopsy Amniocentesis-0.5-1% CVS- 1-2% Down syndrome, DMD, SMA, Beta- Thalassemia , turner syndrome, XXY dnbpaediatrics.blogspot.in
  20. 20.  Name 3 vectors used in gene therapy  State 3 candidate diseases (with single gene defects) for gene therapy Spot 10 dnbpaediatrics.blogspot.in
  21. 21.  Retrovirus ,adenovirus , adeno associated virus , naked DNA  Any chromosomal anomalies ,Severe combined immunodeficiency, Cystic fibrosis, hemophilia, PKU, Gaucher disease, Beta- hemoglobinopathies dnbpaediatrics.blogspot.in
  22. 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 dnbpaediatrics.blogspot.in
  23. 23.  Prader willi syndrome ,chromosome 15  Genetic imprinting / uniparental dizomy  Angelman syndrome dnbpaediatrics.blogspot.in
  24. 24.  Identify the syndrome  Which metabolic problem these children face ?  Give three salient features  Mention the chromosome involved Spot 12 dnbpaediatrics.blogspot.in
  25. 25.  Beckwith-Wiedemann syndrome  Hypoglycemia  LGA, macroglossia, earlobe crease, visceromegaly  Chromosome 11p dnbpaediatrics.blogspot.in
  26. 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 dnbpaediatrics.blogspot.in
  27. 27.  Eyes – cataract, Brushfield spots, myopia, nystagmus  Cardiac – Endocardial cushion defect, VSD, PDA,  GIT – Duodenal atresia, annular pancrease, TOF, Hirschsprungs  Bone – AAD, CDH  Endocrine – hypothyroid, athyroid  CNS – delayed development, seizures,  Thyroid assessment dnbpaediatrics.blogspot.in
  28. 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 dnbpaediatrics.blogspot.in
  29. 29.  Mucopolysaccharidosis  Hunter, Hurler, Scheie, Sanfillipo, Matoteaux Lamy, Morquio, Sly  Urine electrophoresis  Dermatan, Keratan, Heparan sulphate  liver, spleen, bone, cornea, hearing, cardiac  Dysostosis multiplex dnbpaediatrics.blogspot.in
  30. 30.  Diagnosis  Inheritance  Incidence of next sib with same problem  Which sex is involved Spot 15 dnbpaediatrics.blogspot.in
  31. 31.  Tuberous sclerosis  Autosomal recessive  25%  Both, equal chances dnbpaediatrics.blogspot.in
  32. 32.  Name 3 drugs contraindicated in pregnancy  Name 3 drug related syndromes with one associated feature each. Spot 16 dnbpaediatrics.blogspot.in
  33. 33.  Alcohol, Warfarin, Valproate, Phenytoin, Methotr exate, retinoic acid, Lithium  Fetal alcohol – IUGR, Microcephaly, small palprebal fissures  Fetal Hydantoin – growth def., MR, finger and nail abnormalities  Fetal Valproate- Dysmorphisms, CVS – coarctation, spina bifida  Fetal Warfarin – nasal hypoplasia, stippled epiphysis, hypoplastic distal limbs dnbpaediatrics.blogspot.in
  34. 34. •Diagnosis •Name 2 more conditions with •similar features Spot 17 dnbpaediatrics.blogspot.in
  35. 35.  Cockaynes syndrome  Progeria, Wiedeman Syndrome, Werner syndrome, Rothmund thompson dnbpaediatrics.blogspot.in
  36. 36.  Name the abnormality  Name 2 syndromes with this feature  Which other organ systems would you test Spot 18 dnbpaediatrics.blogspot.in
  37. 37.  Bilateral Cleft lip  Trisomy 13, Cleft lip sequence, fetal hydantoin, Holoprosencephaly, CHARGE, Trisomy 18  All midline structures  CNS, Cardiac, renal, gonads, ophthal, nose, umbilicus. dnbpaediatrics.blogspot.in
  38. 38.  Diagnosis  Name 2 more conditions with such features  2 organ systems for testing Spot 19 dnbpaediatrics.blogspot.in
  39. 39.  Proteus syndrome, Maffucis, focal Hemihypertrophy  Maffucis, Klippel trenauney syndrome, Proteus  Skeletal, brain, skin, Growth, Visera, Heamat, Vascular dnbpaediatrics.blogspot.in
  40. 40.  Diagnosis  Direct Cause  Underlying pathology  2 other tell tale signs Spot 20 dnbpaediatrics.blogspot.in
  41. 41.  Club foot, eqino varus, amniotic band sequence, arthogryposis sequence  Decreased fetal movements in utero  Congenital CNS/ PNS involvement mainly nerve, muscle  Umbilical hernia, undescended testes, weak cry, poor respiration, dimples dnbpaediatrics.blogspot.in

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