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CYTOGEN FINALS > PRE FI LEC 2: CHROMOSOME > Flashcards

PRE FI LEC 2: CHROMOSOME Flashcards

1
Q
  • Study of inheritance in relation to the structure and function of chromosomes
  • Deals with the cytological and molecular basis of heredity, variation, variation, mutation, morphogenesis, etc.
A

CYTOGENETICS

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2
Q
  • consists primarily of DNA & proteins with a small amount of RNA
A

CHROMOSOME

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3
Q

ESSENTIAL PART OF A CHROMOSOME

A
  • TELOMERE
  • ORIGIN OF REPLICATION SITES
  • CENTROMERE
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4
Q
  • consist of highly repetitive DNA sequences
A

Heterochromatin (dark)

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5
Q
  • contains many protein and coding sequences
A

Euchromatin (light)

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6
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP A
- LARGE METACENTRIC

A

CHROMOSOMES 1,2

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7
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP A
- LARGE SUBMETACENTRIC

A

CHROMOSOME 3

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8
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP B
- LARGE SUBMETACENTRIC

A

CHROMOSOMES 4,5

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9
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP C
- MEDIUM - SIZED SUBMETACENTRIC

A

CHROMOSOMES 6-12, X

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10
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP D
- MEDIUM - SIZED ACROCENTRIC WITH SATELLITES

A

CHROMOSOMES 13-15

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11
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP E
- SHORT METACENTRIC

A

CHROMOSOME 16

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12
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP E
- SHORT SUBMETACENTRIC

A

CHROMOSOME 17,18

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13
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP F
- SHORT METACENTRIC

A

19, 20

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14
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP G
- SHORT ACROCENTRIC WITH SATELLITES

A

CHROMOSOME 21, 22

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15
Q

CLASSIFICATION AND CENTROMERE POSITION
- GROUP E
- SHORT ACROCENTRIC

A

Y

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16
Q
  • chromosome chart
  • displays chromosomes in pairs by size and by physical landmarks that appear during mitotic metaphase, when DNA coils tightly
  • 24 human chromosomes types
  • chromosome 1 - 22
  • X and Y chromosome
A

KARYOTYPE

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17
Q

Chromosomes contain

A
  • TELOCENTRIC
  • ACROCENTRIC
  • SUBMETACENTRIC
  • METACENTRIC
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18
Q

USES OF KARYOTYPE

A
  1. IDENTIFY GENETIC ABERRATIONS, DIAGNOSE, AND CLASSIFICATION OF ORGANISMS
  2. REVEALS THE EFFECTS OF ENVIRONMENTAL TOXINS
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19
Q

what animal species is the human’s closest revolutionary relative according to karyotype analysis?

A

BONOBO or formerly known as the PYGMY CHIMPANZEE (PAN PANISCUS)

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20
Q

DETECTING CHROMOSOMES

A
  1. DIRECT VISUALIZATION OF CHROMOSOMES
  2. INDIRECT DETECTION OF EXTRA CHROMOSOMES
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21
Q

DIRECT VISUALIZATION OF CHROMOSOMES
- 2 technologies that provide images of chromosomes from a fetus

A
  • AMNIOCENTESIS
  • CHORIONIC VILLUS SAMPLING
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22
Q

DIRECT VISUALIZATION OF CHROMOSOMES

  • 1st fetal karyotype (1966)
  • procedure: obtains a sample of AMNIOTIC FLUID from the UTERUS with a needle passed through the women’s abdominal wall
  • most common chromosomal abnormality detected is TRISOMY
  • performed between 14 & 16 weeks gestation
A

AMNIOCENTESIS

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23
Q

DIRECT VISUALIZATION OF CHROMOSOMES

  • during 10th through 12th week of pregnancy
  • procedure: A needle/catheter is inserted either through the cervix/abdomen and guided to placenta to obtain cells from the chorionic villi tissue
  • tests for inborn errors of metabolism (iEM) are not possible
A

CHORIONIC VILLUS SAMPLNG

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24
Q
  • can be used to examine chromosomes
  • saliva and cheek scrapings include WBCs and epithelial cells, which are commonly used as the source of DNA in a clinical setting
A

ANY CELL OTHER THAN A MATURE RBC

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25
Q

C. Preparing cells and chromosomes
- counting of chromosomes:
________________ is used to arrest cells during cell division

A

COLCHICINE

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26
Q

C. Preparing cells and chromosomes
- Untangling chromosomes:
Washing WBCs in a ______________

A

SALT SOLUTION (HYPOTONIC)

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27
Q

C. Preparing cells and chromosomes
- 1ST Karyotypes used _____ to stain chromosomes a uniform color

A

DYES

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28
Q

FIRST CHROMOSOMAL ABNORMALITIES DESCRIBED IN 1959:
- extra chromosome 21

A

DOWN SYNDROME

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29
Q

FIRST CHROMOSOMAL ABNORMALITIES DESCRIBED IN 1959:
- female with only 1 X chromosome

A

TURNER SYNDROME (X0 SYNDROME)

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30
Q

FIRST CHROMOSOMAL ABNORMALITIES DESCRIBED IN 1959:
- male with an extra X chromosome

A

KLINEFELTER SYNDROME (XXY SYNDROME)

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31
Q

1967
- material missing from chromosome 4 (belongs to chromosome 4 of B group)

A

B-GROUP CHROMOSOME DISORDER

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32
Q

1970s
- new stains created banding patterns unique to each chromosomes such as _______________________

A

GIEMSA STAINS creates G BANDS

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33
Q

1970s:
- introduced to highlight individual gametes

A

FLUORESCENCE IN SITU HYBRIDIZATION (FISH)

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34
Q
  • Based on chromosome banding
  • graphical representation that displays chromosome information
  • schematic chromosome map
A

IDEOGRAM

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35
Q
  • symbols to describe the type of aberration, such as deletion or translocation; numbers corresponds to specific bands
A

CHROMOSOMAL SHORTHAND

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36
Q

CHROMOSOMAL SHORTHAND
Abbreviation: 46, XY
Meaning: ?

A

NORMAL MALE

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37
Q

CHROMOSOMAL SHORTHAND
Abbreviation: 46, XX
Meaning: ?

A

NORMAL FEMALE

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38
Q

CHROMOSOMAL SHORTHAND
Abbreviation: 45, X
Meaning: ?

A

TURNER SYNDROME (FEMALE)

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39
Q

CHROMOSOMAL SHORTHAND
Abbreviation: 47, XXY
Meaning: ?

A

KLINEFELTER SYNDROME (MALE)

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40
Q

CHROMOSOMAL SHORTHAND
Abbreviation: 47, XYY
Meaning: ?

A

JACOBS SYNDROME (MALE)

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41
Q

CHROMOSOMAL SHORTHAND
Abbreviation: 46, XY, del (7q)
Meaning: ?

A

A MALE MISSING PART OF THE LONG ARM OF CHROMOSOME 7

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42
Q

CHROMOSOMAL SHORTHAND
Abbreviation: 47, XX, +21
Meaning: ?

A

A FEMALE WITH TRISOMY 21 DOWN SYNDROME

43
Q

CHROMOSOMAL SHORTHAND
Abbreviation: 46, XY, t, (7, 9), (p21, 1, q34,1)
Meaning: ?

A

A MALE WITH TRANSLOCATION BETWEEN THE SHORT ARM OF CHROMOSOME 7 AT BAND 21, 1 AND THE LONG ARM OF CHROMOSOME 9 AT BAND 34, 1

44
Q

CHROMOSOMAL SHORTHAND
Abbreviation: 48, XXYY
Meaning: ?

A

A MALE WITH AN EXTRA X AND Y CHROMOSOME

45
Q
  • COMPUTERIZED representation of an individual’s/ organism’s complete set of chromosomes
  • it shows copy number variants (repeats) and is color-coded to represent chromosomes that have exchanged parts
  • involves capturing, analyzing, and displaying the chromosomes in a standardized format using specialized software
A

DIGITAL KARYOTYPE

46
Q
  • measures or detect characteristics that is associated with havInG
    chromosomal abnormality
  • used as screening tests to identify individuals at elevated risks (do not provide diagnostic)
A

INDIRECT DETECTION OF CHROMOSOMES

47
Q

INDIRECT DETECTION OF CHROMOSOMES
- biochemical whose levels in the blood are within a certain range in a pregnant woman carrying a fetus with normal number of chromosomes, but may lie outside that range in fetuses whose cells have an extra copy of a certain chromosomes

A

MATERNAL SERUM MARKERS

48
Q

MATERNAL SERUM MARKERS
_________________ value indicates how far an individual results deviate from the normal range of concentration of each marker

A

MULTIPLE OF MEDIANS (MoM)

49
Q

_________ = level of biomarker is 2x as high or 2x as low as the average in a normal pregnancy (elevated risk)

A

MoM ABOVE 2.0

50
Q

INDIRECT DETECTION OF CHROMOSOMES
- testing of the fetal DNA in the woman’s bloodstream ( 20% of those small pieces of DNA came from the placenta)
- done 10 weeks into the pregnancy or later
- first versions detected trisomies 13, 18, and 21
- removes the focus on maternal age
- so sensitive
- complete fetal exomes and genomes can also be sequenced

A

CELL - FREE FETAL DNA TESTING

51
Q

C. ATYPICAL CHROMOSoME NUMBER
- the number of chromosomes in a somatic cell is 46

true or false?

A

FALSE, the number of chromosomes in a somatic cell is NOT 46

52
Q

C. ATYPICAL CHROMOSoME NUMBER
- EXTRA SETS of chromosomes in a cell
- Triploid
common among flowering plants and in some insects

A

POLYPLOIDY

53
Q
  • individual whose cells have 3 copies of each chromosome (3N , for 3 sets of chromosomes)
A

TRIPLOID

54
Q
  • 2/3 of all triploids result from fertilization of an oocyte by _____
  • 17% spontaneous abortion
A

2 sperm

55
Q

C. ATYPICAL CHROMOSoME NUMBER
- MISSING a single chromosome (monosomy) or having an extra chromosome (trisomy)

A

ANEUPLOIDY

56
Q

most are spontaneously aborted & intellectual disability is concern

A

AUTOSOMAL ANEUPLOIDY

57
Q

milder symptoms

A

SEX CHROMOSOME ANEUPLOIDY

58
Q

a chromosome pair fails to separate at anaphase of either 1st or 2nd meiotic division

A

NONDISJUNCTION

59
Q
  • having extra or missing autosome
  • most cease developing long before birth
    -most frequently seen extra autosomes in newborns are chromosomes 21 (trisomy 21/DOWN), 18, (trisomy 18/EDWARD), & 13 (trisomy 13/PATAU)
A

AUTOSOMAL ANEUPLOIDY

60
Q
  • most common autosomal aneuploidy among liveborns
  • 1st described by John Langdon Haydon Down in 1866 & referred to it as “ MONGOLIAN IDIOCY” due to epicanthal folds and flat face
  • genes near the tip of the long arm of the chromosome contribute most of the abnormalities
  • Genome editing: mechanism of X inactivation to “turn off” the extra chromosome
  • 90% are due to nondisjunction during meiosis I in the female
A

TRISOMY 21 (DOWN SYNDROME)

61
Q

1959: ________________ identified the presence of an extra chromosome in individuals with down syndrome

A

JEROME LEJEUNE

62
Q

Likelihood of giving birth to a child with trisomy 21 increases dramatically with the _________:
- the older the woman, the longer oocytes have been arrested on the brink of completing meiosis
- females have a pool of immature aneuploidy oocytes resulting from spindle abnormalities

A

AGE OF THE MOTHER

63
Q

TRISOMY 21 is 1st described by______________ in 1866 & referred to it as “ MONGOLIAN IDIOCY” due to epicanthal folds and flat face

A

JOHN LANGDON HAYDON DOWN

64
Q
  • described by John Edwards in 1960
  • most do not survive to be born, but few have lived into young adulthood
  • great physical & intellectual disabilities, with developmental skills stalled at the 6-month level
  • nondisjunction in meiosis II of the oocyte
A

TRISOMY 18 (EDWARDS SYNDROME)

65
Q

TRISOMY 18 (EDWARDS SYNDROME)
MAJOR ABNORMALITIES:

A
  • HEART DEFECTS
  • DISPLACED LIVER
  • GROWTH RETARDATION
  • ODDLY CLENCHED FISTS
66
Q

TRISOMY 18 (EDWARDS SYNDROME)
MILDER SIGNS:

A
  • OVERLAPPING FINGERS
  • NARROW AND FLAT SKULL (MICROCEPHALY)
  • LOW - SET EARS
  • SMALL MOUTH
  • UNUSUAL FINGERPRINTS
  • “ROCKER-BOTTOM” FEET
67
Q

TRISOMY 18 is described by ________________ in 1960

A

JOHN EDWARDS

68
Q
  • described by Dr, Klaus Patau in 1960
    -mostly affected individuals do not survive to be born, but few have lived into young adulthood
  • MOST STRIKING SIGN: FUSION OF THE DEVELOPING EYES (more common is a small or absent eye
A

TRISOMY 13 (PATAU SYNDROME)

69
Q

TRISOMY 13 (PATAU SYNDROME)
MAJOR ABNORMALITIES:

A
  • AFFECT THE HEART, BRAIN, KIDNEYS, FACE & LIMBS
  • THERE MAY BE PRESENCE OF EXTRA FINGERS
70
Q

TRISOMY 13 (PATAU SYNDROME)
ULTRASOUND EXAMINATION:

A
  • EXTRA SPLEEN
  • ATYPICAL LIVER
  • ROTATED INTESTINES
  • ABNORMAL PANCREAS
71
Q
  • having extra or missing sex chromosomes
  • FEMALE: X0 SYNDROME, TRIPLO-X SYNDROME
  • MALE: XXY SYNDROME, XXYY SYNDROME, XYY SYNDROME
A

SEX CHROMOSOME ANEUPLOIDS

72
Q
  • 45, X
  • 1938: HENRY TURNER observed young women with the condition; physicians assumed this was caused by hormonal insufficiency
    1954: cells from turner patients do not have a BARR BODY
    1959: only 1 X chromosome; missing only a part of an X chromosome, mosaics (only some cells missing an X chromosome)
  • 99% of X0 fetuses are NOT BORN
  • Syndrome affects in 1 in 2,500 female births
A

X0 SYNDROME (TURNER SYNDROME)

73
Q

X0 SYNDROME
At birth:

A

PUFFY HANDS AND FEET CAUSED BY IMPAIRED LYMPH FLOW

74
Q

X0 SYNDROME
ADULTS:

A
  • OSTEOPOROSIS
  • TYPE 1&2 DIABETES
  • COLON CANCER
75
Q
  • 47, XXX
  • 1st identified in 1995 by Dr. Patricia Jacobs & her colleagues
  • 1 in every 1,000 females
  • tall structure and menstrual irregularities
  • rarely intellectual disabled, but they to be less intelligent than their siblings
  • behavioral problems (ADHD or symptoms of autism spectrum disorder) & psychological problems (depression & anxiety)
  • lack of symptoms: protective effect f X inactivation
A

TRISOMY X (TRIPLO-X SYNDROME)

76
Q
  • 47, XXY
  • 1st described by Dr. Harry Klinefelter in 1942 & his colleagues
  • 1 in every 500 males has the extra X chromosomes
  • severely affected MEN: underdeveloped sexually, have very long arms & legs, large hands & feet, & may develop breast issues (gynecomastia)
  • slow to learn but are not intellectually disabled
  • most common genetic or chromosomal cause of male infertility
A

XXY SYNDROME (KLINEFELTER SYNDROME)

77
Q
  • 48, XXYY
  • previously been described as a variant of Klinefelter syndrome, however the medical and neurodevelopmental features are complex
  • 1 in 17, 000 newborn boys
  • tend to develop foot and leg ulcers
  • adolescent & teen years: ADHD, OCD, ASD, & learning disabilities; low testosterone level, delayed development of secondary sexual characteristics, & undescended testes
  • ADULTS: infertile
A

XXYY SYNDROME

78
Q
  • 47, XYY
  • 1st described by Dr. Avery Sandberg & colleagues in 1961 and became more widely publicized in 1965 when Dr. Patricia Jacobs & colleagues suggested a link between XYY syndrome, intellectual disability and criminal behavior
  • 1 in 1,000 males & 96% may be very tall and have acne
  • problems with speech and understanding language are subtle
  • nondisjunction in the male, producing a sperm with 2 Y chromosomes that fertilizes an X-bearing oocyte
A

XYY SYNDROME (JACOBS SYNDROME)

79
Q
  • The individual chromo have extra, missing or rearranged genetic material
A

ATYPICAL CHROMOSOME STRUCTURE

80
Q

ATYPICAL CHROMOSOME STRUCTURE
- Missing & extra DNA sequences
- Often arise de novo(neither of the parents has abnormalities)
- Uses COMPARATIVE GENOMIC HYBRIDIZATION:
used to detect microdeletions and microduplications
- Helps diagnose autism

A

DELETIONS AND DUPLICATION

81
Q

used to detect microdeletions and microduplications

A

COMPARATIVE GENOMIC HYBRIDIZATION

82
Q

ATYPICAL CHROMOSOME STRUCTURE
- Different (nonhomologous) chromosome exchange or combine parts
- Types:
a) Robertsonian translocation
b) Reciprocal translocation Philadelphia chromosome
c) Insertional translocation

A

TRANSLOCATIONS

83
Q

TYPES OF TRANSLOCATION
- some cases in Down syndrome

a) Robertsonian translocation
b) Reciprocal translocation Philadelphia chromosome
c) Insertional translocation

A

Robertsonian translocation

84
Q

TYPES OF TRANSLOCATION
- when 2 chromosomes exchange parts

a) Robertsonian translocation
b) Reciprocal translocation Philadelphia chromosome
c) Insertional translocation

A

Reciprocal translocation Philadelphia chromosome

85
Q

TYPES OF TRANSLOCATION
- rare type
- Parts of chromosomes insert to other parts of
chromosomes

a) Robertsonian translocation
b) Reciprocal translocation Philadelphia chromosome
c) Insertional translocation

A

Insertional translocation

86
Q

Person with large translocation is called
____________ : HAS 45 CHROMOSOMES not 46

A

translocation carrier

87
Q

used technique to highlight chromosomes.
Arises de novo on oocytes or sperms

A

FISH (FLUORESCENCE IN SITU HYBRIDIZATION)

88
Q

ATYPICAL CHROMOSOME STRUCTURE
- Inverted sequence of chromosomes
- Occurs when there are two breaks in 1 chromosome
TYPES:
- Paracentric inversion
- Pericentric inversion

A

INVERSION

89
Q

TYPES OF INVERSION:
- Inversion DOES NOT include centromere

A

Paracentric inversion

90
Q

TYPES OF INVERSION:
- Inversion INCLUDES the centromere

A

Pericentric inversion

91
Q

ATYPICAL CHROMOSOME STRUCTURE
- Results of another meiotic error that leads to
UNBALANCED GENETIC MATERIAL
- Forms during division
- Known for chromosome 12 & 21 for the long arms of X & Y

A

ISOCHROMOSOMES

92
Q

ATYPICAL CHROMOSOME STRUCTURE
- Shaped like rings
- May arise when telomeres are lost, leaving sticky ends that adhere
- Exposure to radiation forms ring
- Do not affect health, but few can

A

RING CHROMOSOMES

93
Q

ATYPICAL CHROMOSOME STRUCTURE
- Inheriting two chromosomes or chromosome segments from one parent
- 2 bodies from 1 parent
Cause:
- NONDISJUNCTION of the same chromosome in
sperm
- Trisomy is followed by CHROMOSOME LOSS

A

UNIPARENTAL DISOMY (UPD)

94
Q

unequal chromosome division

A

NONDISJUNCTION

95
Q

EXAMPLES OF UPD

A
  • Prader-Willi syndrome
  • Angelman syndrome
  • a baby inherits both copies of a section of chromosomes 15 from mother
  • inherits both copies from father instead mother
  • Unusual case of cystic fibrosis
  • Doubles part of 1 parents contribution
  • Baby inherits the allele in double dose
96
Q

Chromosomes contain
 Has centromeres in one end
 Telomere DNA sequence is at the tip

A. TELOCENTRIC
B. ACROCENTRIC
C. SUBMETACENTRIC
D. METACENTRIC

A

TELOCENTRIC

97
Q

Chromosomes contain
- mid centromere
- P short arm and q long arm

A. TELOCENTRIC
B. ACROCENTRIC
C. SUBMETACENTRIC
D. METACENTRIC

A

SUBMETACENTRIC

98
Q

Chromosomes contain
- centromere near at the end

A. TELOCENTRIC
B. ACROCENTRIC
C. SUBMETACENTRIC
D. METACENTRIC

A

ACROCENTRIC

99
Q

Chromosomes contain
- has equal sized arm

A. TELOCENTRIC
B. ACROCENTRIC
C. SUBMETACENTRIC
D. METACENTRIC

A

METACENTRIC

100
Q

RING CHROMOSOME SYNDROME
- Microcephaly; triangular forehead; closely spaced, slanted, protruding eyes; arched brows; small jaw; congenital heart defects; abnormal male genitalia; intellectual disability

A

CHROMOSOME 9

101
Q

RING CHROMOSOME SYNDROME
- Microcephaly, small eyes, developmental delay, underdevelopment of certain brain parts, difficulty feeding, unusual hands and feet, small or closed anus, abnormal genitals, heart defects, abnormal kidneys

A

CHROMOSOME 13

102
Q

RING CHROMOSOME SYNDROME
- Microcephaly, puffy hands and feet, seizures, delayed speech and motor skills, recurrent infections, intellectual disability

A

CHROMOSOME 14

103
Q

RING CHROMOSOME SYNDROME
- Microcephaly, short stature, seizures, intellectual disability

A

CHROMOSOME 20

104
Q

RING CHROMOSOME SYNDROME
- Microcephaly, wide nose, large ears and eyes, floppiness (HYPOTONIA), delayed speech and language, autistic behaviors, learning disabilities

A

CHROMOSOME 22

CYTOGEN FINALS (11 decks)

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