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Cytogenetics > Chromosome Disorders > Flashcards

Chromosome Disorders Flashcards

1
Q

Secondary to structural or numeric chromosomal abnormalities involving the rearrangement or the loss or gain of a piece of a chromosome or the entire chromosome

A

Chromosome disorders

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2
Q

Most chromosome disorders such as Down syndrome occur because of mistakes during

A

Meiosis (the cell division that makes sex cells)

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3
Q

Humans have _____ total chromosomes
humans are ____
2n and n = ____
Dogs have _____ total chromosomes
Cats have _____ total chromosomes

A

46
diploid
23
78
38

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4
Q

Refers to a condition wherein an organism has one or more complete sets of chromosomes. In a euploid organism in total number of chromosomes is an exact multiple of its haploid number

A

Euploidy

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5
Q

Refers to a condition wherein an organism has extra or missing chromosomes, so that the total number of chromosomes is not an exact multiple of its haploid number

A

Aneuploidy

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6
Q

Four common categories of aneuploidy crop up in human

A

Nullisomy
Monosomy
Trisomy
Tetrasomy

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7
Q

When a chromosome is missing altogether. Embryos that are nullisomic don’t survive to be born

A

Nullisomy

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8
Q

When one chromosome lacks its homolog

A

Monosomy

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9
Q

When one extra copy of chromosome is present

A

Trisomy

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10
Q

When four total copies of a chromosome are present. Also extremely rare

A

Tetrasomy

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11
Q

Refers to all such abnormalities that do not involve the sex chromosomes. This condition can manifest as individual who has an extra chromosome or is missing a chromosome

A

Autosomal aneuploidy

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12
Q

Missing chrosome

A

monosomy

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13
Q

Extra chromosome

A

trisomy

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14
Q

Only autosomal reported in liveborn infants
Infants with ___ rarely survive for longer than a few days or weeks
The result of nondisjunction during meiosis

A

Monosomy 21

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15
Q

A chromosomal condition that occurs when an error in cell division results in an extra chromosome 21

A

Down syndrome

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16
Q

Down syndrome can effect a person’s cognitive ability and physical growth, cause mild to moderate developmental issues, and present a higher risk of some health problems.

The majority of Down syndrome cases seen to arise from nondisjunction during meiosis

A

Trisomy 21

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17
Q

A genetic disorder caused by the presence of all or part of extra 18th chromosome

A

Edwards Syndrom
Trisomy 18
Trisomy E

18
Q

Caused by an extra chromosome 13. Infants are typically small and often have major brain, eye, face, and heart defects

A

Patau syndrome
Trisomy 13

19
Q

more frequently found in infants and
children than autosomal aneuploidy. This is due to the fact that our body
has a way of balancing out expression of most of the genes on the sex
chromosomes, this is also the reason why aneuploidy of the sex
chromosome is much more survivable than the autosomal origin

A

Aneuploidy of the sex chromosomes

20
Q

The features of this condition are also much less noticeable, a person may
not even know that they are suffering unless they will
undergo chromosome testing.

A

Aneuploidy of the sex chromosome

21
Q

a genetic disorder that affects
about 1 in 1,000 females.
a female has three X
chromosomes.

A

Trisomy X
Triple X syndrome
Trisomy X
47, XXX

22
Q

a genetic condition in which a boy is born
with an extra X chromosome.
Instead of the typical XY chromosomes in men, they have XXY,

A

XXY Syndrome
Klinefelter syndrome

23
Q

a rare chromosomal
disorder that affects males. It is caused by the presence of an extra Y
chromosome.
Males normally have one X and one Y chromosome. However, individuals
with this syndrome have one X and two Y chromosomes

A

XYY Syndrome
Jacobs syndrome

24
Q

This condition occurs when
there is one X chromosome and no
second sex chromosome.
Individuals with just one X chromosome
are female.

A

Turner Syndrome
Monosomy X

25
Q

A state in which an organism or cell contains two or more
basic sets of chromosomes
. Most ____ pregnancies result in miscarriage or
stillbirth.

A

Polyploidy

26
Q

A condition in which a chromosome abnormality is
present in some cells of the body but not all.

A

Mosaicism

27
Q
  • Chromosome examination
  • Reveals exactly how many chromosomes are present in a cell along with
    some details about the structure of the chromosomes
  • Can only see details by staining the chromosomes with special dyes
  • Ideal for detecting numerical chromosome problems
A

Karyotyping

28
Q

Chromosome is Greek for

A

colored body

29
Q

missing or having extra chromosomes

A

aneuploidy

30
Q

molecular cytogenetic technique that uses
fluorescent probes that bind to only those parts
of a nucleic acid sequence with a high degree
of sequence complementarity

A

Chromosome studies : Fish

31
Q

Is a method that uses microchips containing anchored arrays of short DNA elements (known as
probes) for the large-scale interrogation of gene expression. Also known as array comparative
genomic hybridization (aCGH)

A

Microarray analysis

32
Q

A method of
determining the risk that the fetus will be born with certain genetic abnormalities.
This testing analyzes small fragments of
DNA that are circulating in a pregnant
woman
’
s blood

A

Non ivasive prenatal testing

33
Q

Genes inside the chromosome

A

alele

34
Q

Combination of alele

A

genotype

35
Q

Specific location given inside the chromosome

A

loci

36
Q

_____ act like dominant but they are recessive
______ is controlled by single gene (XIST) X InactiveSpecific Transcript which is activated if zygote is over 16
cells in size
- Therefore gender depends on what father pass

A

X chromosome
X inactivation

37
Q

Extra XS (Poly-X)
taller than average and often have thin build, rarely
have mental retardation but increasing every year

A

Female: Triplo - X (xxx)

38
Q

Extra XS (Poly X)
-many as 4 extra X
-many X express inactivation, only 1 is active
-taller than average and impaired fertility, less facial hair,
breast
enlargement

A

Male: Klinefelter syndrome

39
Q

Additional abnormality
-XYY
-super male
-Taller and grows faster
-more prone to be criminal/prisoner
-learning disabilities

A

Extra Ys

40
Q

Extra Abnormality
-Turner syndrome
-Female
-Never undergo puberty, no menstruation and short
-kidney and heart defects

A

One X and no Y

Cytogenetics (2 decks)

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