Chromosomal Abberrations

Question 1

are released by specific cells and stimulate other cells
to grow and divide.

Answer 1

Growth Factors

Question 2

In ________-____________ ___________, crowded cells will stop dividing.

Answer 2

Density-dependent inhibition

Question 3

However, most cells also exhibit __________ ___________ cells must be
attached to a surface for division.

Answer 3

Anchorage Dependence

Question 4

is a process where a normal cell is converted to a
cancerous cell.

Answer 4

Transformation

Question 5

Transformation occurs when the genes that regulate cell growth and
differentiation are altered through

Answer 5

Mutation

Question 6

Such genes are called _________ __________ ____, meaning all genes whose mutation contributes to the causality
of cancer.

Answer 6

Cancer-critical genes

Question 7

are genes of the first class that normally promote
growth and division of normal cells.

Answer 7

Proto-oncogenes

Question 8

overactive forms are called

Answer 8

Oncogenes

Question 9

are genes of the second class that
normally inhibit division and survival of abnormal cells.

Answer 9

Tumor-Suppressor Genes

Question 10

abnormal mass of cells within
otherwise normal tissue.

Answer 10

Tumors

Question 11

If an abnormal mass of essentially normal cells
remains only at the original site in the body, the lump is
called a

Answer 11

Benign Tumor

Question 12

In contrast to a benign tumor, a ______ ___, is cancerous.

Answer 12

malignant tumor

Question 13

Malignant tumors invade
surrounding tissues and can ____________, spreading cancer
cells beyond their original site, where they may form
additional tumors.

Answer 13

Metasize

Question 14

The common chromosomal alterations in humans often lead to spontaneous miscarriages or
create a variety of disorders. These genetic disorders are caused by

Answer 14

Nondisjunction

Question 15

An individual with an altered
chromosome number is a condition
known as

Answer 15

Anueploidy

Question 16

A __________ ____ has only one copy of a particular
chromosome (2n – 1)

Answer 16

Monosomic zygote

Question 17

has three copies of a particular
chromosome (2n + 1).

Answer 17

Trisomic zygote

Question 18

two types of Abnormal Chromosome Number

Answer 18

Aneuploidy of Autosomes
Aneuploidy of Sex Chromosomes

Question 19

types of Anueploidy of Autosomes:

Answer 19

Down Syndrome
Edwards Syndrome
Patau Syndrome

Question 20

is the most common single
cause of congenital disorder in humans affecting 1/740 live births. The physical
and mental impacts of Down syndrome range from mild to severe.

Answer 20

Down Syndrome (Trisomy 21; 47,XX/XY,+21)

Question 21

is the second most
common autosomal trisomy after trisomy 21. Edwards syndrome occurs in
1/5,000 live births that severely affects all organ systems. Approximately 95%
of conceptions with trisomy 18 die in embryonic or fetal life while 5-10% of
affected children survive beyond the first year of life.

Answer 21

Edwards Syndrome (Trisomy 18; 47,XX/XY,+18)

Question 22

is a rare abnormality that
affects 1/10,000 live births. Many of the multiple symptoms of Patau syndrome
are not compatible with more than a few months of life. Almost half of the
affected infants do not survive beyond the first month, and about three quarters
die within 6 months.

Answer 22

Patau Syndrome (Trisomy 13; 47,XX/XY,+13)

Question 23

Types of Aneuploidy of Sex Chromosomes

Answer 23

Turner Syndrome
Klinefelter Syndrome
Jacobs Syndrome
Metafemale Syndrome

Question 24

is the only known viable
monosomy in humans affecting 1/2000 live female births (and 15% of
spontaneous abortions). Individuals with Turner syndrome are phenotypically
female.

Answer 24

Turner Syndrome (Monosomy X; 45,XO)

Question 25

approximately affects 1 in 500-1,000 males
born with an extra X chromosome. About 40% of conceptions with Klinefelter
syndrome survive the fetal period.

Answer 25

Klinefter Syndrome (47,XXY)

Question 26

occurs in 1/1000 live births. Individuals with
Jacob syndrome are usually very tall and thin. Many males experience severe
acne during adolescence. Additional symptoms may include antisocial or
behavioral problems and learning disabilities. Intelligence is usually normal,
although IQ, on average, is 10 to 15 points lower than siblings.

Answer 26

Jacobs Syndrome (47,XYY)

Question 27

affects 7.4-15.6/10,000 female births or
3.6-7.5/10,000 live births. The fetal death rate of triple X syndrome is not
notably higher than that for conceptions with normal chromosomes. The
clinical features are subtle and can be variable and often not identified in
infancy.

Answer 27

Metafemale (Trisomy X; 47,XXX)

Question 28

two types of Abnormal Chromosome Structure

Answer 28

Deletion
Translocation

Question 29

(French for “cry of the cat”) is due to a deletion in the
short arm (p arm) of chromosome 5. Between 1 in 20,000 and 1 in 50,000
babies are affected. Infants with cri-du-chat syndrome commonly have a
distinctive cat-like or high-pitched cry caused by a malformation of the larynx.

Answer 29

Cri-Du-Chat Syndrome

Question 30

happens between chromosome 9 and a large
portion of the long arm (q arm) of chromosome 22. The translocation is
designated t(9;22). This results in one chromosome 9 longer than normal and
one chromosome 22 shorter than normal.

Answer 30

The Philadelphia Chromosome

Question 31

occurs when a portion of, or an entire, chromosome
21 fuses with one chromosome 14. An individual is phenotypically normal, but
could have children with Down syndrome.

Answer 31

Down Syndrome Carrier