karyotype 1 Flashcards
Target of Karyotyping?
Chromosomes
is the number and appearance of chromosomes in the nucleus of a eukaryotic cell
Karoytype
XX Chromosome?
Female
XY chromosomes?
Male
is also used for the complete set of chromosomes in a species, or an individual organism.
Karyotype
Series of Testing
Karyotyping Analysis
After the required quantity of cells has been acquired, the cells are treated with a drug called_________ to stop the mitotic process at metaphase.
Colchicine
The cells are placed in a ____________ ________ that causes them to take on water, thereby increasing their overall size
hypotonic solution
Variations in Chromosome Number: a chromosome number that is a mutiple of the normal haploid set
-multiple set of chromosome that are affected
Polyploidy
Variations in Chromosome Number: A chromosomal number that varies by something less than a set
-there are only specific set of chromosomes that is affected
Aneuploidy
Types of Aneuploidy: having only one member of a homologous pair
-one pair of chromosomes is missing
Monosomy
Types of Aneuploidy: having three copies of a single chromosome
Trisomy
Is a major cause of reproductive failure
Aneuploidy
What is the risk age of getting pregnant
35 years and above
Caused by:
1. Errors in meiosis
2. Events after fertilization
3. Errors in mitosis
Polyploidy
during the gametes formation, sex cells formation. nagkaroon ng error through the exchanges of genes
Errors in meiosis
during the zygote formation it is incomplete
Events after fertilization
- Three sets of chromosome
- Most common form of polyploidy
Triploidy
- Four sets of chromosome
- Extremely uncommon in live births
- Life threatening
Tetraploidy
Most common cause of aneuploidy in __________________________ in meiosis
NonDisjunction
is the failure of homologs or sister chromatids chromosomes to separate in meiosis or mitosis
Nondisjunction
Nondisjunction produces?
Abnormal gametes
- Lethal condition
- Aneuploidy during gamete formation produces equal numbers of monosomic and trisomic gametes and embryos.
- Rarely seen in spontaneous abortions and live births
- Majority are lost early in development
Autosomal Monosomy
- Most are lethal
- Varies by chromosomes
- there are instances that they could survive
Autosomal Trisomy
What is the affected chromosome in Patau Syndrome
(47, +13)
What is the affected chromosome in edwards syndrome?
(47, +18)
What is the affected chromosome in Down Syndrome?
(47, +21)
- 1/10,000 births
- Average survival time: 2-4 months
- mentally retarted
- Characteristics: clenched fist, defects on heart
Trisomy 18: Edwards Syndrome
For unknown reasons 80% of all trisomy 18 are _____
female
- 1/5000 births
- Lethal: mean survival time is atleast 1 month
- Characteristics: deformed facial structure, more prone to infection due to open cavities.
Trisomy 13: Patau Syndrome
- much more common= much more life expectancy
- 1/700 live births
- Leading cause of metal retardation and heart defects in US
- 40% congenital heart defects
Trisomy 21: Down Syndrome
First chromosomal abnormality discovered in humans (1959)
Trisomy 21: Down Syndrome
What is the average age of people who have down syndrome?
20 to 30 years
- 1/1000
- most of them are mentally retarded, they have gynecomastia
- Affected individuals are male with low fertility and may have mental dysfunction
- they don’t have facial hair features
- they have testicular atrophy
Klinefelter’s Syndrome
- 1/5000 births
- Females; short, wide chest; rudimentary ovaries; and abnormal sexual development.
- Puffiness of hands and feet
- Abnormalities of the aorta
- No mental dysfunction
Turner Syndrome
- Discovered by Dr. Jacob
- most patients are criminals
- 1/1000 births
- Above average in height
- No established link with possible antisocial behavior
- TALL
Jacob Syndrome
Klinefelter’s Syndrome
(47, XXY)
Turner Syndrome
(45, X)
Jacob Syndrome
(47, XYY)
