Introduction

Question 1

_______ is the study of chromosome and genomic structure and function with a focus on the behavior of chromosomes during meiosis and mitosis

Answer 1

Cytogenetics

Question 2

_______ aka ______ ______ mutations are inheritable

Answer 2

constitutional, germ line

Question 3

________ mutations are acquired and not inheritable

Answer 3

somatic (acquired)

Question 4

_______ ________ in 1882 is credited with the discovery of chromosomes

Answer 4

Walther Flemming (tumor cells in mitosis)

Question 5

The 30 nm fiber describes a well-characterized condensed state of ________?

Answer 5

chromatin

Question 6

____________(s) and ____________(s) are constitutive heterochromatin that is genetically inactive, repetitive DNA

Answer 6

Centromeres and telomeres

Question 7

The ____ chromosome is facultative heterochromatin that is reversibly activated and
inactive

Answer 7

X

Question 8

___________ cluster at periphery of nucleus during G1 and disperse in S

Answer 8

Centromeres

Question 9

Gene _______chromosomes in center of nucleus while gene ______ chromosomes locate toward nuclear envelope

Answer 9

rich (center), poor (envelope)

Question 10

___________ (s) interact with nuclear envelope to help anchor chromosomes

Answer 10

Telomeres

Question 11

Heterochromatin is associated with tight _______ histone binding

Answer 11

H1

Question 12

3 structures of metaphase chromosomes

Answer 12

metacentric, submetacentric, acrocentric

Question 12

Light G-bands: contain more __________ (chromatin) and are ____-rich,DNA

Answer 12

euchromatin, GC-rich

Question 13

Dark G-bands: contain more ___________ (chromatin) and ______-rich DNA

Answer 13

heterochromatin, AT-rich

Question 14

Complex of proteins at the centromere to which the microtubules of the spindles attach

Answer 14

kinetochore

Question 15

Telomere sequence

Answer 15

TTAGGG

Question 16

Sister chromatids are joined together at the _______________

Answer 16

centromere

Question 16

After each replication, the telomere shortens by ______ bp

Answer 16

100

Question 17

Meiosis _______ generates diversity (thinking crossing over)

Answer 17

Meiosis I

Question 18

At the end of meiosis ___________ sister chromatids separate

Answer 18

Meiosis II

Question 19

Male meiosis begins at _____________

Answer 19

puberty

Question 20

It takes ~ ______ days to mature a sperm cell, about ______ days are spent in meiosis

Answer 20

64 days, 21 days

Question 21

About ______ rounds of mitosis of the primordial germ cells produce the
diploid oogonia in a follicle

Answer 21

20

Question 22

In females Meiosis II occurs at _______, 10 to 50 years later

Answer 22

ovulation

Question 23

By _____ month of fetal development oogonia have developed into primary oocytes, suspended in Prophase I

Answer 23

3rd

Question 24

Specialized egg phase where they are suspended in prophase I

Answer 24

dictyotene

Question 25

Egg meiosis II requires ___________

Answer 25

sperm penetration

Question 26

_________________ is considered essential for proper chromosome segregation of homologues

Answer 26

recombination

Question 27

_____ to _____% of clinically recognized pregnancies are chromosomally abnormal

Answer 27

7-10%

Question 27

The X and Y chromosomes pair at _____ on the p arms and _______ on the q arms

Answer 27

PAR1, PAR2 (pseudoautosomal regions)

Question 28

Aneuploidy in human zygotes ______ to ______%

Answer 28

5-25%

Question 29

Nondisjunction in meiosis ______ results in heterodisomy and nullisomy

Answer 29

meiosis I

Question 30

Ploidy of humans with 69 and/or 92 chromosomes

Answer 30

polyploidy

Question 30

Nondisjunction in meiosis ______ results in isodisomy

Answer 30

meiosis II

Question 30

Ploidy of gamete cells

Answer 30

haploid

Question 30

Ploidy of humans with 69 chromosomes

Answer 30

triploid

Question 30

______ is the number of homologous chromosome sets present in a cell or organism

Answer 30

ploidy

Question 31

Ploidy with incomplete sets of chromosomes

Answer 31

Aneuploidy (2n-1)

Question 32

_______ only: Paraffin embedded samples Touch preps of tissue Cytospin slides

Answer 32

FISH

Question 33

Syndrome associated with deletion of 4p?

Answer 33

Wolf-Hirschhorn

Question 33

Wolf-Hirschhorn phenotype

Answer 33

microcephaly micrognathia short philtrum prominent glabella ocular hypertelorism **shield faces** dysplastic ears and periauricular tags growth restriction intellectual disability muscle hypotonia seizures congenital heart defects

Question 33

FISH results on interphase cells can be reported in ______ to _____ hours

Answer 33

24 to 48

Question 33

SNP microarray can be used to detect copy neutral ________

Answer 33

LOH, loss of heterozygosity (uniparental disomy)

Question 33

Four things DNA microarrays cannot detect

Answer 33

1. Balanced rearrangements 2. specific mutations 3. trinucleotide repeats 4. low level mosaicism (10-15%)

Question 33

SNP microarray has a resolution of _____ KB

Answer 33

5

Question 34

Molar pregnancies with ______ contributions lack fetal development and have placental abnormalities

Answer 34

diandric (two sets of paternal chromosomes)

Question 35

69, XYY or 69, XXX moles are _________ moles

Answer 35

partial moles

Question 36

46, XX moles are ________ moles

Answer 36

complete (complete uniparental disomy)

Question 37

Completes moles (46, XX) from dispermy are associated with what malignancy?

Answer 37

choriocarcinoma

Question 38

FISH and ____________are both assessed on interphase chromosomes

Answer 38

CMA (chromosomal microarray)

Question 39

Year ______ Mendel published his laws of inheritance developed from pea breeding

Answer 39

1866

Question 40

In 1903 ______ and _______ posited chromosomes as carriers of genetic information (genes)

Answer 40

Boveri and Sutton

Question 41

1909: ______describes the first inborn error of metabolism - alcaptonuria (homogentisic oxidase deficiency)

Answer 41

Garrod

Question 42

_______: Beadle and Tatum develop the one-gene-one-enzyme (protein) theory

Answer 42

1941

Question 43

1944: DNA is transforming factor. _____ et al. studied pneumococcus Showed that infectious characteristics can be transferred between organisms

Answer 43

Avery

Question 44

________is the year sickle cell anemia determined to be inherited

Answer 44

1948

Question 45

________: Watson and Crick describe the structure of DNA

Answer 45

1953

Question 46

Three technical improvements led to this discovery of 46 human chromosomes: 1. Use of ________ – stimulates T cells 2. __________ treatment causing the nucleus to swell and burst 3. Use of _________ to stall mitotic cells

Answer 46

1. PHA - phytohemagglutinin 2. hypotonic 3. colchicine

Question 47

_________ discoverer of trisomy 21

Answer 47

Marthe Gautier/ Jerome Lejeune

Question 48

_______ is the year Peter Nowell discovers “Philadelphia chromosome” responsible for chronic myeloid leukemia

Answer 48

1960

Question 49

1973:______ ________ discovers that the Ph+ chromosome is a translocation between chromosomes 9 and 22 She also identified translocation between chromosomes 8 and 21 in acute myelogenous leukemia, and between 15 and 17 in promyelocytic leukemia

Answer 49

Janet Rowley

Question 50

__________ is the year “Rapid" sequencing methods by Sanger and Maxam & Gilbert

Answer 50

1977

Question 51

1976: Kan, Golbus and Dozy publish first application of a DNA probe in the prenatal diagnosis of a genetic disease ______ _______ ______

Answer 51

sickle cell anemia

Question 52

______: Kerry Mullis envisions PCR

Answer 52

1985