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21 Cards in this Set

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  • Back
Define Clinical Cytogenetics
studies the relationship between human disease and chomosomal alterations/ abberations
Define Congenital Chromosomal Alterations.
What is another name for this type of alteration?
Chromosomal changes present at birth which may result in mental retardation and abnormal physical appearance. aka constitutional chormosomal alterations.
Define Acquired Chromosomal alterations.
Chromosomal changes as a result of cancer which are found only in cancerous cells.
What two stages of the cell cycle are the best stages at which to study chromosomes?
a. prophase or metaphase
When is chromosome morphology visualized?
During mitotic cell division
What stain is used for cytogenetic studies and what does this all for?
Giemsa banding using trysin banding technique allows for brightfield visulization of chromosomes.
What types of specimins are used for cytogenetic studies? What must be baintained for these specimins to be utilized?
a. Peripheral blood cell in sodium heparin (or other anticoagulants).
b. Bone marrow specimins for cancer and leukemias
c. In Situ Amniotic Fluid Culture
d. Solid tumor specimins to study fetal tissues, products of conception, skin punch biopsies, and solid tumors.
What is FISH and what is it used to detect?
It is a fluorescently labeled DNA probe that hybridizes to a specific region of DNA on a specific chromasome and is used to detect Trisomy, aneuploidy, marker chromasomes, cryptic deletions, duplications, or translocations.
What is SKY and what does it allow for?
Spectral Karyotyping is used for cromosomal identification in which each chromosome is displayed in a different color and allows for easy characterization of marker chromosomes, chromosomal rearrangements seen in cancer cells, and subtle translocations.
What is ISCN and what does it do?
the International system for Human Cytogenetic Nomenclature serves as a universal system to describe chromosomes
What are the types of numerical chromosomal abnormalities?
diploidy and aneuploidy (hypo- or hyper-ploidy)
What are the types of structural chromosomal abnormalities?
What are the characteristics of Down Syndrome?
flat facial profile
excess nuchal skin
upslanted eyes
protruding tongue
cardiac defects (50%)
low set ears
single palmar crease
mental retardation
What chromosomal abnormalities are associated with Down Syndrome? (3)
-trisomy 21
-inverson of a major portion of chromosme 21 on chromosome 14
What are the characteristics of edwards syndrome?
clenched fists
severe mental retardation
What chromosomal abnormality is associated with Edwars syndrome?
trisomy 18
What are the characteristics of Trisomy 13?
cleft lip and/or palate
small eyes
severe mental retardation
What are the characteristics of triploidy?
-pre- and post-natal growth deficiency
-asymmetry of body development
-underdeveloped genitalia in males
-mental retardation
what is the chromosomal alteration for triploidy
a complete third set of chromosomes present in the persons genome
What are the characteristics of Cri du chat syndrome?
-round flat faces
-short wide head (microbrachycephaly)
-low birth weight
-cat-like cry
-severe mental retardation
what chromosomal alteratino is responsible for Cri du Chat syndrome?
(5p-) deletion