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31 Cards in this Set
- Front
- Back
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Define Clinical Cytogenetics.
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The study of the relationship between human disease and chromosome alterations.
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When are cells arrested for cytogenetic analysis?
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Metaphase in Mitosis
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What are the 4 specimen collection methods for cytogenetic samples and what they are used for?
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1. Sodium Heparinized Peripheral Blood: Newborns with MCA and habitual abortion couples.
2. Amniotic Fluid: Prenatal genetic diagnosis, AMD, NTD, and history of chromasome abnormalities. 3. Bone Marrow: Patients with cancers and leukemias. 4. Solid Tissue Studies: Fetal tissues/conception products, skin punch biopsies, solid tumors. |
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What is used to arrest cells at the metaphase stage?
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Colcemid
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What is Giemsa Banding with Trypsin?
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A banding technique which allowed bright-field visualization of chromosomes.
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Define FISH.
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Fluorescently labeled DNA probe that hybridizes to a specific region of DNA on a specific chromosome.
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What is FISH used to detect?
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Tirsomy or Anueploidy
Marker Chromosomes Cryptic deletions, duplications or translocations |
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Define SKY and explain what it does.
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Spectral Karyotyping. SKY is a new technique used to ID chromosomes. It simultaneously displays each chromosome in a different color.
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What is a normal human karyotype?
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22 Autosomes
2 Sex Chromosomes |
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How do you ID chromosomes?
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Size and Centromere Position
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What are the 4 numerical abnormalities?
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Diploidy
Aneuploidy Hypoploidy Hyperploidy |
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What are the 5 types of structural abnormalities?
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Additions
Deletions Translocations Inversions Rings |
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What are the characteristics of Edwards Syndrome?
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IUGR
Microcephaly Micrognathia Clenched Fists Severe Mental Retardation |
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What are the chromosome abnormalities associated with Edwards Syndrome?
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Trisomy 18
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What are the characteristics of Down Syndrome?
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Flat facial profile
Excess nuchal skin Hypotonia Upslanted eyes Portruding tongue Cardiac effects Low set ears Single palmar crease Mental retardation |
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What are the chromosomal abnormalities associated with Down Syndrome?
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Trisomy 21 (inversion of 21[i21] onto q10)
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What are the characteristics of Trisomy 13?
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Cleft lip or palate
Small eyes Polydactyly Severe mental retardation |
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What are the characteristics of Prader-Willi Syndrome?
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Hypotonia
Hypogonadism Obesity Mental retardation Increased desire for food |
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What are the chromosomal abnormalities associated with Prader-Willi Syndrome?
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Parental deletion of 15q
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True or False.
To diagnose someone with PWS, a FISH probe can be used and if the gene is present, it is diagnostic of PWS. |
FALSE
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What chromosamal abnormalities are associated with APL(M3), what does it cause and what is the recommended treatment?
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Common, non-random translocation of the 15 cromosome to the 17th. [t(15:17)].
Dx: Retinoic REceptor Problem Tx: Retinoic Acid |
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What is the abnormality associated with CGL(CML) and where is it found?
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Translocation between 9 and 22. [t(9:22)].
It is only found in the bone marrow. |
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What chromosomal abnormalities are associated with AML (M4) and what does it cause?
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Inversion of chromosome 16.
Associated with abnormal eosinophils. |
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What chromosomal aberration is characteristic of Burkitt's Lymphoma?
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t(8:14)
Secondary change including der(3), chromosome involving 3p and 11q. |
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What are the 4 interacting factors in hemostasis and what are their functions?
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1. Blood Vessels: Reduce blood flow.
2. Platelets: Adhere and form aggregates and contribute to the coagulation process. 3. Blood coagulation factors: Form fibrin clot. 4. Fibrinolysis: Breakdown clot when healing is complete. |
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What chromosomal abberation is consistent with Mantle Cell Lymphoma?
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t(11:14)
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What is monosomy 13 associated with?
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Poor response to conventional chemotherapy and short overall survival.
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Name the 3 centromere placements and explain each.
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Metacentric: Middle
Sub-metacentric: below the middle Acrocentric: Above the middle |
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What is the standardized nomenclature system for cytogenetic analysis?
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ISCN (International System for human Cyotgenetic Nomenclature)
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What type of therapy is utilized to treat CML and what does it do?
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GleeVec. It targets the tyrosine kinase BCR-abl gene product.
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What chromosomes to BCR and abl correspond to?
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Chromosome 22 and 9, respectively.
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