Karyotyping Part 1

Question 1

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

Answer 1

KARYOTYPE

Question 2

Once the cells have been obtained for a karyotype, they are mixed with plant-derived chemicals

Stimulate mitosis

Answer 2

LECTINS

Question 3

After the required quantity of cell has been acquired, the cells are treated with a drug

Answer 3

Colchicine

Question 4

cell are place that causes them to take on water, thereby increasing their overall size

Answer 4

Hypotonic solution

Question 5

How the chromosomes may be distinguished from one another based upon several characteristics

Answer 5

i. the length of the arm of the chromosome
ii. shape
iii. general appearance of the chromosome

Question 6

a chromosome number that is a multiple of the normal haploid set

Answer 6

Polyphloidy

Question 7

a chromosomal number that varies by something less that a set

Answer 7

Aneuphloidy

Question 8

having only one member of a homologous pair

Answer 8

Monosomy

Question 9

having three copies of a single chromosomes

Answer 9

TRISOMY

Question 10

______________ percentage of early embryonic deaths and spontaneous abortions are caused by aneuploidy

Answer 10

35% - 70%

Question 11

_____________ percentage of early childhood deathstare related to aneuploidy

Answer 11

5% - 7%

Question 12

Caused by errors in meiosis, events after fertilization, errors in mitosis

Answer 12

Polyploidy

Question 13

Three set of chromosome, most common form of polyploidy, 15% - 18% of all spontaneous abortions

Answer 13

Triploidy

Question 14

Four sets of chromosomes, 5% of all spontaneous abortions, extremely uncommon in live births, may result from failure pf cytokinesis in the first mitotic division, life threatening

Answer 14

Tetraploidy

Question 15

i.
Lethal condition
ii.
Aneuploidy during gamete formation produces equal numbers of monosomic and trisomic gametes and embryos.
iii.Rarely seen in spontaneous abortions and live births
iv.Majority are lost early in development

Answer 15

Autosomal Monosomy

Question 16

i.1/10,000 births
ii.Average survival time: 2-4 months
iii. Edward Syndrome [47, +18]

Answer 16

Trisomy 18

Question 17

i.1/5,000births
ii.Lethal: mean survival time is at least 1 month
iii.Patau Syndrome [47, +13]

Answer 17

Trisomy 13

Question 18

-1/700 live births
-40% congenital heart defects.
-down syndrome [47, +21]

Answer 18

Trisomy 21: Down Syndrome (47, +21)

Question 19

i.Advanced maternal age
ii.Risk increases rapidly after 35 years of age

Answer 19

Risk for Autosomal Trisomy

Question 20

• 1/1000
• male/mental dysfunction

Answer 20

Klinefelter’s Syndrome (47, XXY)

Question 21

• 1/5000births
• female/ no mental dysfunction
• Single Xchromosome

Answer 21

Turner Syndrome (45, X)

Question 22

•1/1000births
•Above average in height
• antisocial behavior

Answer 22

Jacob Syndrome (47, XYY)

Question 23

-most lethal
-50% cases of chromosomal abnormalities that cause fetal death
-rish increase after 35 yrs of age

Answer 23

Autosomal Trisomy