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31 Cards in this Set

  • Front
  • Back
Define Clinical Cytogenetics.
The study of the relationship between human disease and chromosome alterations.
When are cells arrested for cytogenetic analysis?
Metaphase in Mitosis
What are the 4 specimen collection methods for cytogenetic samples and what they are used for?
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.
What is used to arrest cells at the metaphase stage?
What is Giemsa Banding with Trypsin?
A banding technique which allowed bright-field visualization of chromosomes.
Define FISH.
Fluorescently labeled DNA probe that hybridizes to a specific region of DNA on a specific chromosome.
What is FISH used to detect?
Tirsomy or Anueploidy
Marker Chromosomes
Cryptic deletions, duplications or translocations
Define SKY and explain what it does.
Spectral Karyotyping. SKY is a new technique used to ID chromosomes. It simultaneously displays each chromosome in a different color.
What is a normal human karyotype?
22 Autosomes
2 Sex Chromosomes
How do you ID chromosomes?
Size and Centromere Position
What are the 4 numerical abnormalities?
What are the 5 types of structural abnormalities?
What are the characteristics of Edwards Syndrome?
Clenched Fists
Severe Mental Retardation
What are the chromosome abnormalities associated with Edwards Syndrome?
Trisomy 18
What are the characteristics of Down Syndrome?
Flat facial profile
Excess nuchal skin
Upslanted eyes
Portruding tongue
Cardiac effects
Low set ears
Single palmar crease
Mental retardation
What are the chromosomal abnormalities associated with Down Syndrome?
Trisomy 21 (inversion of 21[i21] onto q10)
What are the characteristics of Trisomy 13?
Cleft lip or palate
Small eyes
Severe mental retardation
What are the characteristics of Prader-Willi Syndrome?
Mental retardation
Increased desire for food
What are the chromosomal abnormalities associated with Prader-Willi Syndrome?
Parental deletion of 15q
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.
What chromosamal abnormalities are associated with APL(M3), what does it cause and what is the recommended treatment?
Common, non-random translocation of the 15 cromosome to the 17th. [t(15:17)].
Dx: Retinoic REceptor Problem
Tx: Retinoic Acid
What is the abnormality associated with CGL(CML) and where is it found?
Translocation between 9 and 22. [t(9:22)].
It is only found in the bone marrow.
What chromosomal abnormalities are associated with AML (M4) and what does it cause?
Inversion of chromosome 16.
Associated with abnormal eosinophils.
What chromosomal aberration is characteristic of Burkitt's Lymphoma?
Secondary change including der(3), chromosome involving 3p and 11q.
What are the 4 interacting factors in hemostasis and what are their functions?
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.
What chromosomal abberation is consistent with Mantle Cell Lymphoma?
What is monosomy 13 associated with?
Poor response to conventional chemotherapy and short overall survival.
Name the 3 centromere placements and explain each.
Metacentric: Middle
Sub-metacentric: below the middle
Acrocentric: Above the middle
What is the standardized nomenclature system for cytogenetic analysis?
ISCN (International System for human Cyotgenetic Nomenclature)
What type of therapy is utilized to treat CML and what does it do?
GleeVec. It targets the tyrosine kinase BCR-abl gene product.
What chromosomes to BCR and abl correspond to?
Chromosome 22 and 9, respectively.