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CYTO > karyotype 1 > Flashcards

karyotype 1 Flashcards

1
Q

Target of Karyotyping?

A

Chromosomes

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2
Q

is the number and appearance of chromosomes in the nucleus of a eukaryotic cell

A

Karoytype

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3
Q

XX Chromosome?

A

Female

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4
Q

XY chromosomes?

A

Male

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5
Q

is also used for the complete set of chromosomes in a species, or an individual organism.

A

Karyotype

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6
Q

Series of Testing

A

Karyotyping Analysis

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7
Q

After the required quantity of cells has been acquired, the cells are treated with a drug called_________ to stop the mitotic process at metaphase.

A

Colchicine

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8
Q

The cells are placed in a ____________ ________ that causes them to take on water, thereby increasing their overall size

A

hypotonic solution

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9
Q

Variations in Chromosome Number: a chromosome number that is a mutiple of the normal haploid set

-multiple set of chromosome that are affected

A

Polyploidy

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10
Q

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

A

Aneuploidy

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11
Q

Types of Aneuploidy: having only one member of a homologous pair

-one pair of chromosomes is missing

A

Monosomy

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12
Q

Types of Aneuploidy: having three copies of a single chromosome

A

Trisomy

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13
Q

Is a major cause of reproductive failure

A

Aneuploidy

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14
Q

What is the risk age of getting pregnant

A

35 years and above

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15
Q

Caused by:
1. Errors in meiosis
2. Events after fertilization
3. Errors in mitosis

A

Polyploidy

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16
Q

during the gametes formation, sex cells formation. nagkaroon ng error through the exchanges of genes

A

Errors in meiosis

17
Q

during the zygote formation it is incomplete

A

Events after fertilization

18
Q
  1. Three sets of chromosome
  2. Most common form of polyploidy
A

Triploidy

19
Q
  1. Four sets of chromosome
  2. Extremely uncommon in live births
  3. Life threatening
A

Tetraploidy

20
Q

Most common cause of aneuploidy in __________________________ in meiosis

A

NonDisjunction

21
Q

is the failure of homologs or sister chromatids chromosomes to separate in meiosis or mitosis

A

Nondisjunction

22
Q

Nondisjunction produces?

A

Abnormal gametes

23
Q
  1. Lethal condition
  2. Aneuploidy during gamete formation produces equal numbers of monosomic and trisomic gametes and embryos.
  3. Rarely seen in spontaneous abortions and live births
  4. Majority are lost early in development
A

Autosomal Monosomy

24
Q
  1. Most are lethal
  2. Varies by chromosomes
  3. there are instances that they could survive
A

Autosomal Trisomy

25
Q

What is the affected chromosome in Patau Syndrome

A

(47, +13)

26
Q

What is the affected chromosome in edwards syndrome?

A

(47, +18)

27
Q

What is the affected chromosome in Down Syndrome?

A

(47, +21)

28
Q
  1. 1/10,000 births
  2. Average survival time: 2-4 months
  3. mentally retarted
  4. Characteristics: clenched fist, defects on heart
A

Trisomy 18: Edwards Syndrome

29
Q

For unknown reasons 80% of all trisomy 18 are _____

A

female

30
Q
  1. 1/5000 births
  2. Lethal: mean survival time is atleast 1 month
  3. Characteristics: deformed facial structure, more prone to infection due to open cavities.
A

Trisomy 13: Patau Syndrome

31
Q
  1. much more common= much more life expectancy
  2. 1/700 live births
  3. Leading cause of metal retardation and heart defects in US
  4. 40% congenital heart defects
A

Trisomy 21: Down Syndrome

32
Q

First chromosomal abnormality discovered in humans (1959)

A

Trisomy 21: Down Syndrome

33
Q

What is the average age of people who have down syndrome?

A

20 to 30 years

34
Q
  1. 1/1000
  2. most of them are mentally retarded, they have gynecomastia
  3. Affected individuals are male with low fertility and may have mental dysfunction
  4. they don’t have facial hair features
  5. they have testicular atrophy
A

Klinefelter’s Syndrome

35
Q
  1. 1/5000 births
  2. Females; short, wide chest; rudimentary ovaries; and abnormal sexual development.
  3. Puffiness of hands and feet
  4. Abnormalities of the aorta
  5. No mental dysfunction
A

Turner Syndrome

36
Q
  1. Discovered by Dr. Jacob
  2. most patients are criminals
  3. 1/1000 births
  4. Above average in height
  5. No established link with possible antisocial behavior
  6. TALL
A

Jacob Syndrome

37
Q

Klinefelter’s Syndrome

A

(47, XXY)

38
Q

Turner Syndrome

A

(45, X)

39
Q

Jacob Syndrome

A

(47, XYY)

CYTO (3 decks)

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