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4 chromosomal aberrations ks

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    4 chromosomal  aberrations ks 4 chromosomal aberrations ks Presentation Transcript

    • Chromosomal Aberrations DR.KIRTI SOLANKE 1
    • Types of Chromosomes 2
    • Types of chromosomal aberrations/ abnormalitiesNUMERICAL STRUCTURAL• ANEUPLOIDY • Translocations• POLYPLOIDY • Deletions • Insertions • Inversions • Rings, Isochromosomes • Different cell lines (mixoploidy) • Mosaicism • Chimerism
    • Discuss mechanism of anomaly
    • Discuss mechanism of anomaly
    • Numerical Abnormalities• Trisomy 21: Down’s Syndrome (47,XX + 21)• Trisomy 18: Edward’s Syndrome (47,XY + 18)• Trisomy 13: Patau’s Syndrome (47,XY + 13)• Trisomy of Sex Chromosome : Klinefelter Syndrome (47, XXY)• Trisomy X: Triple X Syndrome (47, XXX)• Other Trisomies : Usually not viable.• Monosomy X: Turner Syndrome (45, XO)• Autosomal Monosomies : Not viable
    • Trisomy 21; Down Syndrome Causes-trisomy,translocation,mosaicism• over 60% of conceptions aborted spontaneously• 20% stillborn• incidence increases sharply w/ maternal age• 1/300 for 35 year olds• 1/22 for 45 year olds
    • Brushfield spots onirisHypotonia ofmuscles
    • Simian Crease
    • TURNER’S SYNDROME 45XO • Causes: – Non-dysjunjtion – Mosaicism – Ring Chromosome – Deletion – Isochromosome • Short stature • Widely spaced nipples • Carrying angle at elbow
    • Klinefelters Syndrome (47, XXY)
    • STRUCTURAL ABERRATIONS 20
    • Structural Abnormalities Of Chromosomes• Result from the breaks in the chromosomes• Causative factors for the breaks: • Radiation, Drugs ,Viruses.• Types of structural abnormalities are: 1. Deletion 2. Insertion 3. Duplication 4. Inversion 5. Isochromosome 6. Translocation 7. Transposition 8. Ring Chromosome 21
    • Structural Abnormalities Of Chromosomes• Classified as – Stable & Unstable• Also classified as – Balanced & Unbalanced 22
    • Terminal Deletion 23
    • Interstitial Deletion 24
    • Interstitial Deletion 25
    • Deletions• May arise through unequal crossing over A B C D E F G x A B C D E F G A B C D E G A B C D E F F G Deletion Duplication
    • INSERTION 27
    • Insertion 28
    • Insertion& Duplication 29
    • INVERSION 30
    • Inversions• Produced through breakage and reassociation of chromosome D E C A B F G
    • Inversions• Produced through breakage and reassociation of chromosome D E C A B F G
    • INVERSIONPericentric Inversion 33
    • Inversion: Pericentric & Paracentric Pericentric 34
    • Paracentric 35
    • Pericentric Paracentric Inversion InversionINVERSION 36
    • Isochromosome(Transverse centromeric division) 37
    • Isochromosome (Transverse centromeric division)Example:•Long arm of X- chromosome remains, short arms lost•Cytogenetic variant of Turner’s syndrome 38
    • Isochromosome 39
    • TRANSLOCATIONS 40
    • 41
    • Reciprocal Translocation video
    • Robertsonian Translocation 45
    • Acrocentric Chromosomes (Group D & G) 47
    • Reciprocal (Balanced) Robertsonian Translocation:translocation: Between two acrocentric chromosomeBetween any two chromosomes e.g. Chromosome 13 & 21Translocation 48
    • Robertsonian TranslocationCommon Robertsonian translocations are confined to theacrocentric chromosomes 13, 14, 15, 21 and 22; short arms of thesechromosomes contain no essential genetic material. 49
    • 50
    • Ring Chromosome 51
    • Ring Chromosomee.g. r(22): Ring Chromosome no.22 52
    • STRUCTARAL ABERRATION