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Cytogenetics > Chromosome and Banding > Flashcards

Chromosome and Banding Flashcards

1
Q

consists primarily of DNA and proteins with a small amount of RNA

A

Chromosome

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2
Q

considered a chromosomal aberration if it is large enough to be seen with a light microscope using stains and/or fluorescent probes to highlight missing, extra, or moved genetic material

A

Mutations

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3
Q

dark colored, consists mostly of highly repetitive DNA sequences

A

Heterochromatin

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4
Q

dark colored, consists mostly of highly repetitive DNA sequences

A

Heterochromatin

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5
Q

light colored, has many protein-encoding sequences

A

Euchromatin

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6
Q

repetitive DNA sequences found at the end of the chromosome

A

telomeres

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7
Q

largest constriction of a chromosome, where spindle fibers attach when the cell divides

A

Centromere

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8
Q

contacts the spindle fibers, enabling the cell to divide

A

Kinetochore

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9
Q

chromosome parts that lie between protein-rich areas and the telomeres

A

Subtelomeres

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10
Q

standard chromosome chart, it displays chromosomes in pairs by size and by physical landmarks that appear during mitotic metaphase, when DNA coils tightly, enabling it to be visualized

A

Karyotype

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11
Q

a karyotype with one extra chromosome

A

Trisomy

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12
Q

the centromere divides the chromosome into two arms of approximately equal length

A

Metacentric

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13
Q

the centromere establishes one long arm and one short arm

A

Submetacentric

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14
Q

It pinches off only a small amount of material toward one end

A

Acrocentric

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15
Q

the centromere is near one end, although telomere DNA, sequences are at the tip

A

Telocentric

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16
Q

blob-like ends, found in five human
chromosomes (13, 14, 15, 21,
and 22), that extend from a
thinner, stalklike bridge from
the rest of the chromosome

A

Satellites

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17
Q

performed between 14 and 16 weeks of gestation, when the fetus is not yet very large but amniotic fluid is plentiful

A

Amniocentesis

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18
Q

a procedure that is less accurate than amniocentesis and in about 1 in 1,000 to 3,000 procedures, it halts development of the feet and/or hands and may be lethal

A

Chorionic villus sampling

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19
Q

it has the ability to highlight individual genes. It can also “paint” entire karyotypes by probing each chromosome with several different fluorescent molecules

A

Fluorescence in situ hybridization (FISH)

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20
Q

shows chromosome arms and numbered regions, called bands, and subbands

A

Ideogram

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20
Q

shows chromosome arms and numbered regions, called bands, and subbands

A

Ideogram

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21
Q

46, XY

A

Normal male

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22
Q

46, XX

A

Normal female

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23
Q

45, X

A

Turner syndrome (female)

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24
Q

47, XXY

A

Klinefelter syndrome (male)

25
Q

46, XY, del (7q)

A

male missing part of the long arm of chromosome 7

26
Q

47, XX, + 21

A

female with trisomy 21 down syndrome

27
Q

46,XY,t(7;9)(p21.1;q34.1)

A

a male with a translocation
between the short arm of
chromosome 7 at band 21.1
and the long arm of
chromosome 9 and band 34.1

28
Q

48, XXYY

A

male with an extra X and Y chromosome

29
Q

biochemicals whose levels in the blood are within a certain range in a pregnant woman carrying a fetus with the normal number of chromosomes, but lie outside that range in fetuses whose cells have an extra copy of a certain chromosome

A

Maternal serum markers

30
Q

is made in the yolk sac and leaves the fetal circulation and enters the maternal bloodstream at a certain rate

A

Alpha fetoprotein

31
Q

can detect certain fetal chromosomal abnormalities, like some of the trisomy conditions

A

Cell-free DNA testing

32
Q

cell with extra set of chromosomes

A

Polyploid

33
Q

cells missing a single chromosome or having an extra chromosome

A

Aneuploid

34
Q

a normal chromosome number

A

Euploid

35
Q

cells with one missing chromosome

A

Monosomy

36
Q

The most frequently seen extra
autosomes in newborns are
chromosomes 21, 18, and 13,
because these chromosomes carry many fewer protein-
encoding genes than other autosomes, compared to their
total amount of DNA.

A

Autosomal aneuploids

37
Q

A person with Down syndrome
is usually short and has
straight, sparse hair and a
tongue protruding through thick lips. The hands have an
atypical pattern of creases, the
joints are loose, and poor
reflexes and muscle tone give
a “floppy” appearance.

A

Trisomy 21

38
Q

associated with edwards syndrome have great physical and intellectual disabilities, with
developmental skill stalled at
the 6-month level. Edwards Syndrome

A

Trisomy 18

39
Q

associated with patau syndrome. Major abnormalities affect the heart, kidneys, brain, face, and limbs. The nose is often malformed, and cleft lip and/or palate is present in a small head. There may be extra fingers and toes.

A

Trisomy 13

40
Q

is more frequent
among spontaneously aborted
fetuses than among
newborns—99 percent of XO
fetuses are not born.

A

XO Syndrome or Turner Syndrome

41
Q

The lack of symptoms reflects
the protective effect of X
inactivation—all but one of the
X chromosomes is inactivated.

A

Triplo X

42
Q

diagnosed with Klinefelter
syndrome.

A

XXYY Syndrome

43
Q

arises from
nondisjunction in the male,
producing a sperm with two Y
chromosomes that fertilizes a
normal oocyte.

A

XYY Syndrome

44
Q

Inactivated following
fertilization and embryonic
development. Proposed by Mary Lyon (Lyon
Hypothesis)

A

X Inactivation

45
Q

represents the X chromosome that is inactive

A

Barr Bodies

46
Q

A chromosome can be
structurally atypical in several
ways. It may have too much or
too little genetic material, or a
stretch of DNA that is inverted or moved and inserted into a
different type of chromosome.

A

Atypical chromosome structure

47
Q

used to detect very small CNVs, which are also termed microdeletions and microduplications.

A

Comparative genomic hybridization

48
Q

the short arm of two different
acrocentric chromosomes
break, leaving sticky ends on
the two long arms that join,
forming a single, large
chromosome with two long
arms.

A

Robertsonian translocation

49
Q

person with large,
translocated chromosome.

A

Translocation carrier

50
Q

is inherited or de novo,
just as they can from a
Robertsonian translocation.

A

Reciprocal translocation

51
Q

a rare type of translocation, in
which part of one chromosome
inserts into a nonhomologous
chromosome.

A

Insertional translocation

51
Q

a rare type of translocation, in
which part of one chromosome
inserts into a nonhomologous
chromosome.

A

Insertional translocation

52
Q

the inverted section does
not include the centromere.

A

Paracentric inversion

53
Q

the inverted section does
not include the centromere.

A

Paracentric inversion

54
Q

includes the centromere
within the loop. A
crossover in the
inversion loop produces
two chromatids that have
duplications and
deletions, but one
centromere each, plus
one normal and one
inversion chromatid.

A

Paracentric inversion

55
Q

result of another meiotic error that leads to unbalanced genetic material.

A

Isochromosome

56
Q

may arise when telomeres are lost, leaving sticky ends that
adhere.

A

Ring chromosome

57
Q

unrestrained proliferation and migration of cells.

A

Cancer

58
Q

Genes associated with cancer

A

Oncogene or protooncogenes

59
Q

a genetic condition that affects several parts of your child’s body, including their face, heart, brain and height

A

wolf hirschhorn syndrome

Cytogenetics (8 decks)

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