Medical Genetics Lecture 4-10-Section 2

Medical Genetics Lecture 4-10-Section 2 -...

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    Medical Genetics: Class 3
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    Chromosome Abnormalities Responsible for hundreds of identifiable  syndromes Present in 1% of livebirths 2% of AMA pregnancies 50% of SAB’s in the first-trimester
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    Chromosome Abnormalities May be numerical or structural May involve autosomes, sex  chromosomes, or both Most common aneuploidy Abnormal chromosome number
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    Specific Structural Abnormalities Unbalanced Rearrangements Deletions 1/7000 livebirths Leads to partial monosomy Terminal vs. Interstitial Duplications Leads to partial trisomy Marker/Ring Chromosomes Very small, unidentified  chromosomes Supernumerary chromosomes Extra Structurally Abnormal  chromosomes Isochromosomes Missing one arm and the other is  duplicated in a mirror image Partial monosomy and partial  trisomy Dicentric chromosomes Two chromosome segments fuse  end to end
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