CYTOGEN

Question 1

refers to differences between members of the same species or those of different species

Answer 1

GENETIC VARIATION

Question 2

are substantial changes in the chromosome structure

Answer 2

Chromosomal Aberrations

Question 3

primary ways in which the structure of chromosomes can be altered

Answer 3

Changes in total Amount of Genetic Information

Rearrangement

Question 4

Decrease in Genetic Information

Answer 4

Deficiencies/ Deletions

Question 5

increase in Genetic Information

Answer 5

Duplications & Insertions

Question 6

Rearrangement of Genetic Information

Answer 6

Inversions, Translocations

Question 7

– involve loss of material from a single chromosome. The effects are typically severe
since there is a loss of genetic material

Answer 7

DELETION

Question 8

-Mis-division of the centromere

Answer 8

DELETION

Question 9

-Deletions do ____________ because the DNA is gone (degraded)

Answer 9

not revert

Question 10

It involves a single break and the terminal part of the chromosome is lost

Answer 10

Terminal Deletion

Question 11

Can occur due to errors in cell division or because of environmental factors like radiation, chemicals, or viral infection

Answer 11

Terminal Deletion

Question 12

resulting from terminal deletion of
part of the short arm of chromosome 5

Answer 12

Cri-du-chat syndrome (OMIM 123450)

Question 13

a terminal deletion on the short arm of chromosome 4

Answer 13

Wolf-Hirschhorn Syndrome (OMIM 194190)

Question 14

Deletion that does not involve the terminal parts of a chromosome

Answer 14

Interstitial Deletion

Question 15

causes symptoms including microcephaly, round face, hypertelorism, epicanthal folds, low-set ears, and
micrognathia.

Answer 15

Cri-du-chat syndrome (OMIM 123450)

Question 16

Causes Severe psychomotor and mental retardation

Answer 16

Cri-du-chat syndrome (OMIM 123450)

Question 17

resulting from an interstitial deletion on chromosome 22, leading to a wide range of clinical features, including heart defects, immune system abnormalities, developmental delays, and characteristic facial features

Answer 17

DiGeorge Syndrome (OMIM 188400)

Question 18

A deletion in one allele of a homozygous wildtype organism may give a ______ phenotype

Answer 18

normal

Question 19

deletion in the wild-type allele of a heterozygote would produce a ________ phenotype.

Answer 19

mutant

Question 20

Deletion of the __________ results in an ___________ chromosome that is lost, usually with serious or lethal consequences.

Answer 20

centromere, acentric

Question 21

result from doubling of chromosomal segments, and occur in a range of
sizes and locations

Answer 21

DUPLICATION

Question 22

duplications are adjacent to each other

Answer 22

Tandem duplications

Question 23

duplications result in genes arranged in the opposite order of the original.

Answer 23

Reverse tandem duplications

Question 24

Tandem duplication at the end of a chromosome is a ______________________

Answer 24

terminal tandem duplication

Question 25

duplications are not adjacent to each other

Answer 25

non-tandem duplications

Question 26

Drosophila eye shape allele, _________, that reduces the number of eye facets, giving the eye a slit-like rather than oval appearance

Answer 26

Bar

Question 27

The lack of muscle, a high arch, and claw toes are signs of this genetic disease.

Answer 27

Charcot–Marie–Tooth Disease

Question 28

Charcot–Marie–Tooth Disease is caused by duplication of the gene encoding ________________________ on chromosome ___.

Answer 28

peripheral myelin protein 22 (PMP22), 17

Question 29

Results when a chromosome segment excises and reintegrates oriented 180 degrees from the original orientation

Answer 29

INVERSION

Question 30

There is usually no risk for problems to an individual if the inversion is of __________________

Answer 30

familial origin

Question 31

Most Analyses of inversions use ______________ inversions- diploids in which one chromosome has the standard sequence and one carries the inversion

Answer 31

heterozygous

Question 32

inversion that includes the centromere

Answer 32

Pericentric Inversion

Question 33

Inversion that does not include the centromere

Answer 33

Paracentric Inversion

Question 34

Crossing-over within the inversion loop of a paracentric inversion connects homologous centromeres in a __________________ while also producing an ____________________—a fragment without a centromere.

Answer 34

dicentric bridge, acentric fragment

Question 35

As the chromosomes separate in _________________, the centromeres remain linked by the bridge, which orients the centromeres so that the ______________ chromatids lie farthest apart.

Answer 35

anaphase I, noncrossover

Question 36

Tension eventually breaks the bridge, forming two chromosomes with _________________________

Answer 36

terminal deletions

Question 37

The gametes containing such deleted chromosomes may be inviable but, even if viable, the ___________ that they eventually form are inviable.

Answer 37

zygotes

Question 38

CONSEQUENCIES OF CHROMOSOME INVERSION IN HUMANS:

Answer 38

lowered fertility due to production of unbalanced gametes

Question 39

occurs when a segment of one chromosome is transferred to another chromosome

Answer 39

Translocation

Question 40

Involves the rearrangement of parts between non-homologous chromosomes

Answer 40

Translocation

Question 41

There are two main types of Translocation:

Answer 41

1. Reciprocal (Balanced) Translocation 2.Robertsonian (unbalanced) Translocation

Question 42

in _____________ two non/homologues chromosomes exchanged genetic material

Answer 42

reciprocal translocations

Question 43

-the transfer of genetic material occurs in only one direction -are associated with phenotypic abnormalities or even lethality

Answer 43

ROBERTSONIAN TRANSLOCATIONS

Question 44

- In this condition, the majority of chromosome _____ is attached to chromosome ____ - The individual would have three copies of genes found on a large segment of chromosome 21; Therefore, they exhibit the characteristic of ___________________

Answer 44

21, 14, Down Syndrome

Question 45

Breaks occur at the extreme ends of the ________ arms of two non-homologous acrocentric chromosomes.

Answer 45

short

Question 46

Robertsonian Translocations are confined to chromosomes _____________ (the acrocentric chromosomes)

Answer 46

13, 14, 15, 21, 22

Question 47

* Most human malignant tumors have _________________________ * Most common are _________________

Answer 47

chromosomal mutations, translocations

Question 48

is a type of non-Hodgkin lymphoma.  It develops when the body makes abnormal B-lymphocytes – the lymphoma cells. (Blymphocytes are white blood cells that fight infection)

Answer 48

Follicular Lymphoma

Question 49

a structure where a chromosome has lost one of its arms, and the replacement arm is an exact mirror image of the remaining arm

Answer 49

ISOCHROME

Question 50

a structure where a chromosome has lost one of its arms, and the replacement arm is an exact mirror image of the remaining arm

Answer 50

ISOCHROMES

Question 51

development disorder that affects any parts of the body - Characterized by extremely weak muscle tone, in in fancy and early childhood intellectual disability, distinctive facial features, sparse hair, areas of unusual skin features, and other birth defects - extra isochromosome 12p

Answer 51

Pallister-Killian mosaic syndrome

Question 52

Transfer of genetic material from Chromosome 14 to 18 in the Bcl2 terminal

Answer 52

Follicular Lymphoma

Question 53

Transfer of genetic material myc gene from Chromosome 8 to 14 .

Answer 53

Burkitt Lymphoma

Question 54

increased immunoglobin promotter

Answer 54

Burkitt Lymphoma

Question 55

organisms which contain balanced ser or sets of chromosomes in any number

Answer 55

Euploidy

Question 56

have a single basic set of chromosomes

Answer 56

Monoploidy

Question 57

organisms with more than two genomes

Answer 57

Polyploid

Question 58

most seedless fruits are ____________

Answer 58

Triploid

Question 59

Diploid organisms which are missing one chromosome of a single pair are monosomic with the genomic formula 2n-1

Answer 59

Monosomy

Question 60

can be either due to the loss of one or more chromosomes (hypoploidy) or due to addition of one or more chromosomes to the complete chromosome set (hyperploidy)

Answer 60

Aneuploidy

Question 61

An organism which has lost a chromosome pair is a nullosomic. The nullosomic organism has the genomic formula (2n–2).

Answer 61

Nullisomy

Question 62

are those diploid organisms which have an extra chromosome (2n +1)

Answer 62

Trisomics

Question 63

The diploid organisms having two extra chromosomes

Answer 63

Tetrasomy

Question 64

Known as Trisomy 21

Answer 64

Down Syndrome

Question 65

Down’s syndrome is named after the physician _______________________ who first described this genetic defect in 1866 and it was formally called ___________ or _______________________.

Answer 65

J.Langdon Down, mongolism, mongolian idiocy

Question 66

Known as Trisomy 18

Answer 66

Edward's Syndrome

Question 67

Known as Trisomy 13

Answer 67

Patau's Syndrome

Question 68

It is characterized by multiple malformations, primarily low-set ears; small receding lower jaw; flexed and clenched fingers; cardiac malformations; and various deformaties of skull, face and feet. Harelip and cleft palate often occurs. Death takes place around 3 to 4 months of age.

Answer 68

Edward's Syndrome

Question 69

Individuals with ________________ appear to be markedly mentally retarded; have sloping forehead, harelip and cleft palate. Polydactyly (both hands and feet) is almost always present; the hands and feet are deformed. Cardiac and various internal defects (of kidney, colon, small intestine) are common

Answer 69

Patau syndrome

Question 70

Known as monosomy 45, X

Answer 70

Turner Syndrome

Question 71

Known as 47, XXY

Answer 71

Klinefelter’s Syndrome

Question 72

Known as Supermale; 47, XYY

Answer 72

XYY Syndrome

Question 73

Known as Superfemale; 47, XXX)

Answer 73

XXX Syndrome

Question 74

Gonadala dysgenesis, primary amenorrhoea  Average intelligence, short webbed neck (pterygium colli); low posterior hairline; broad/shield chest; palms and feet edema (newborns)

Answer 74

Turner Syndrome

Question 75

Tall stature; average intelligence; male psychosocial orientation; hypoplastic testes, cryptochism; sterility- azoospermia; gynecomastia (enlargement of breast in male)

Answer 75

Klinefelter’s Syndrome