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Genetics

Genetics - Term Definition Metacentric chromosomes 1 3 16...

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Term: Metacentric chromosomes Definition: 1, 3, 16, 19, 20 Term: Acrocentric chromosomes Definition: 13, 14, 15, 21, 22, Y Term: Drawbacks to FISH Definition: - the resolution isn't that high and you have to know what you're looking for (to make probe) Term: Aneuploidy Definition: Abnormal # of chromosomes in the cell, caused by NDJ Term: Trisomies compatible with life Definition: 13, 18, 21 (and some XY)
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Term: Trisomies tolerated only in mosaic form Definition: 8, 9, 14, 22 Term: Three types of mosaic trisomy Definition: in somatic cells only, in somatic and gonad cells, in gonad cells only Term: Phenotypes of reciprocal translocation Definition: None, dominant, non-specific abnormalities Term: Alternate segregation during meosis Definition: 18+13 or 18' + 13' = normal phenogype Term: Robertsonian Translocation Definition: Fusion of the long arms of acrocentric chromosomes (normal phenotoype) - 45 chromosomes
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Term: The Philadelphia chromosome Definition: T (9,22) ; large role in cancer Term: Two types of inversions Definition: paracentric (on same side of centromere) and pericentric (on different sides of centromere) Term: First sex determination gene Definition: SRY on Y chromosome (Sex-determining region Y) Term: DAX1 Definition: Gene on X chromosome - can override SRY on Y chromosome Term: XIST Definition: Gene that inactivates the X chromosome - "only women exist"
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Term: Test to look for balanced translocation Definition: Cytogenetic testing (not array) Term: Parents have a 7 year old with abnormalities (chromosome) Definition: Test the child first (not the parents) Term: A couple has multiple children with Down's syndrome - possible reasons Definition: One parent has a Robertsonian translocation, gonad mosaicism for Trisomy 21 Term: Wolf Hirschhorn Definition: Deletion of part of 4p Term: Source of unbalanced translocation Definition: 99% - one parent is a carrier of the balanced translocation
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Term: Drawbacks of cytogenetic analysis Definition: Have to have cells in mitosis; low resolution, sometimes hard to interpret Term: Two types of FISH Definition: Mitosis and interphase Term: Trisomy 13 Definition: More severe than trisomy 21; children normally die before 6 months / 1 year Term: The risk that a de novo apparently balanced translocation causes abnormality Definition: 10% Term: The BIG POINT on balanced translocations Definition: Normal individuals with balanced translocations have an increased risk for unbalanced offspring
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Term: Where you can see "recurrent deletions" Definition: Often between regions with low copy repeats Term: When to deletions cause disease? Definition: When it affects a dosage-sensitive gene (or imprinted gene). Term: 46 XX --> male Definition: Translocation brings SRY gene from Y to X chromosome (in father). The patient usually has some fertility issues, since Y chromosome has other important genes.
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