Karyotyping quiz Flashcards
- sex chromosomes content
- presence or absence of individual chromosomes
- nature or extent of chromosomal aberrations
KARYOTYPE
samples can be used for Karyotyping?
Samples can be taken from:
* blood
* bone marrow
* skin sample from an adult
* amniotic fluid
* extra embryonic cells from chronic villi from an unborn child
These samples allow for chromosomal analysis.
stimulate mitosis.
Lectins
Cell division is arrested by using:
Colchicine
How can chromosomes be distinguished?
Chromosomes can be distinguished by:
* length of the arms
* shape
* general appearance
Term used to describe a cell with 3 sets of chromosomes(3n)
Triploidy
XXY sex chromosme pertains to:
Klinefelter’s Syndrome
A female with “single X” chromosome instead of “double X” sex chromosome result into
Turner Syndrome
*1/1000
*above average in height
*anti social behavior
Jacob Syndrome
- dark regions tend to be heterochromatic, late replicating, and AT rich
- light regions tend to be euchromatic, early-replicating, and GC rich
G-Banding
cells are placed that causes them to take on water, thereby increasing their overall size.
Hypotonic Solution
chromosome number that is a multiple of the normal haploid set.
Polyploidy
It is the condition in which the chromosome number in the cell is not that typical number for the species
Aneuploidy
having only one member of a homologous pair.
Monosomy
having three copies of a single chromosome.
Trisomy
rarely seen in spontaneous abortion and live births
Autosomal Monosomy
- most lethal
- accounts for 50% of cases of chromosomal abnormalities causing fetal death
- risk increases after age 35
Autosomal Trisomy?
*also known as Patau Syndrome (47,+13).
* occurs in 1/5,000
* survival time at least 1 month
Trisomy 13
*also known as Edward Syndrome (47,+18).
* occurs in 1/10,000
* survival time: 2-4 months
Trisomy 18
*Down Syndrome (47,+21).
* occurs in 1/700
* 40% have congenital heart defects
Trisomy 21
utilizes specific gene locus probes in analyzation of chromosomes
FISH
reagent is used in silver staining technique to visualize the nucleolar organization of chromosomes
Silver nitrate
The arresting phase of mitosis for karyotyping analysis
Metaphase
FISH involves Characterization of
Specific segments of genes
Observed in karyotyping
*General appearance of chromosome
*Lenght of chromosomes arms
*Shape of chromosome
Trisomy of chromosome 21 results into
Down syndrome
is a fluorescent pattern
obtained using quinacrine for staining. The
pattern of bands is very similar to that
seen in G-banding.
Q-banding
For karyo typing analysis of a fetus, which of the following is the least ideal sample
*Maternal blood
*Extra-embryonic cells
*Amniotic fluid
*Chorionic villi sample
Amniotic fluid
Dye used in karyotyping
Giemsa
Its is a technique used to quantify the DNA copy number on a genomic scale
Digital karyotyping
