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Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
Genetic
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Genetic

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  • 1. OSCE PEDIATRICS GENETICS dnbpaediatrics.blogspot.in dnbpaediatrics.blogspot.in
  • 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.  Autosomal dominant  NF1 , Polycystic kidney disease ,tuberous sclerosis , hereditory spherocytosis,marfans syndrome, osteogenesis imperfecta.  50%  Either sex. dnbpaediatrics.blogspot.in
  • 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.  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. 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.  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.  Which syndrome has this genotype ?  What is the phenotype ?  State associated salient features. Spot 4 dnbpaediatrics.blogspot.in
  • 9.  Klinefelter syndrome  Male  Hypogenitalism ,hypogonadism ,tall stature ,mental retardation and behavior concerns- aggressive behavior, antisocial acts, learning difficulties, anxiety dnbpaediatrics.blogspot.in
  • 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.  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.  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.  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.  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.  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.  Identify the diagnostic technique  Name 3 syndromes in which this technique is used for diagnosis Spot 8 dnbpaediatrics.blogspot.in
  • 17.  FISH Fluorescent In Situ Hybridization  Down syndrome  Prader willi syndrome  Angel man syndrome  Williams syndrome  Miller Dicker syndrome dnbpaediatrics.blogspot.in
  • 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.  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.  Name 3 vectors used in gene therapy  State 3 candidate diseases (with single gene defects) for gene therapy Spot 10 dnbpaediatrics.blogspot.in
  • 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. 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.  Prader willi syndrome ,chromosome 15  Genetic imprinting / uniparental dizomy  Angelman syndrome dnbpaediatrics.blogspot.in
  • 24.  Identify the syndrome  Which metabolic problem these children face ?  Give three salient features  Mention the chromosome involved Spot 12 dnbpaediatrics.blogspot.in
  • 25.  Beckwith-Wiedemann syndrome  Hypoglycemia  LGA, macroglossia, earlobe crease, visceromegaly  Chromosome 11p dnbpaediatrics.blogspot.in
  • 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.  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.  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.  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.  Diagnosis  Inheritance  Incidence of next sib with same problem  Which sex is involved Spot 15 dnbpaediatrics.blogspot.in
  • 31.  Tuberous sclerosis  Autosomal recessive  25%  Both, equal chances dnbpaediatrics.blogspot.in
  • 32.  Name 3 drugs contraindicated in pregnancy  Name 3 drug related syndromes with one associated feature each. Spot 16 dnbpaediatrics.blogspot.in
  • 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. •Diagnosis •Name 2 more conditions with •similar features Spot 17 dnbpaediatrics.blogspot.in
  • 35.  Cockaynes syndrome  Progeria, Wiedeman Syndrome, Werner syndrome, Rothmund thompson dnbpaediatrics.blogspot.in
  • 36.  Name the abnormality  Name 2 syndromes with this feature  Which other organ systems would you test Spot 18 dnbpaediatrics.blogspot.in
  • 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.  Diagnosis  Name 2 more conditions with such features  2 organ systems for testing Spot 19 dnbpaediatrics.blogspot.in
  • 39.  Proteus syndrome, Maffucis, focal Hemihypertrophy  Maffucis, Klippel trenauney syndrome, Proteus  Skeletal, brain, skin, Growth, Visera, Heamat, Vascular dnbpaediatrics.blogspot.in
  • 40.  Diagnosis  Direct Cause  Underlying pathology  2 other tell tale signs Spot 20 dnbpaediatrics.blogspot.in
  • 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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