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EoM 3 > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

Mild to severe retardation. Clinodactyly. Heart defects (VSD). Premature Alzheimer’s. Leukemia. Some hearing loss

A

Down Syndrome (Trisomy 21)

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2
Q

Fertility of Down Syndrome patients

A

Males are infertile, females reduced fertility

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3
Q

Organism whose chromosome number is not an exact multiple of the typical haploid set for that species. For humans this would be individuals who do not have 23, 46, 69, etc.. chromosomes

A

Aneuploid

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4
Q

Zygote or diploid cell that is missing a chromosome (2n-1)

A

Monosomic

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5
Q

Zygote or diploid cell that has an extra chromosome (2n+1)

A

Trisomic

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6
Q

Extra set or sets of total haploid genome.

A

Polyploidy

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7
Q

Haploid cell or gamete that is missing a chromosome (n-1)

A

Nullisomic

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8
Q

Haploid cell or gamete that has an extra chromosome (n+1)

A

Disomic

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9
Q

Karyotype of a male with down syndrome

A

47, XY, +21

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10
Q

Karyotype of Turner Syndrome

A

45, X_ or 45, XO

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11
Q

Karyotype of male missing one chromosome 14 and one chromosome 21 that has a translocation chromosome consisting of the long arms of 14 and 21

A

45, XY, -14, -21, +t(14q21q)

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12
Q

Aneuploidy can arise in what two ways?

A

1) chromosome nondisjunction

2) chromosome loss during cell division in either meiosis or mitosis

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13
Q

Failure of sister chromatids to migrate to opposite poles during anaphase during a mitotic division in the developing zygote

A

mitotic nondisjunction

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14
Q

Presence of two or more cell lines of different genetic or chromosomal constitution. If mitotic nondisjunction occurs after the 1st division but early in zygote development, some tissues will have normal chromosome complements and others will be trisomic

A

Mosaicism

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15
Q

Nondisjunction occurring in cells with normal chromosome numbers

A

primary nondisjunction

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16
Q

Nondisjunction occurring in aneuploid cells

A

secondary nondisjunction

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17
Q

Chromosomes in which trisomy is compatible with life

A

12, 18, 21, X, and Y

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18
Q

Only monosomic ploidy compatible with life

A

Turner Syndrome (single X)

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19
Q

Increased risk for chromosomal abnormalities. This gamete reaches metaphase I during the fetal period and remain aligned on the metaphase plate until its stimulated to divide

A

Maternal age effect

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20
Q

Non-meiotic nondisjunction ways to have Trisomy 21 (2)

A

1) Robertsonian translocation

2) trisomy 21 mosaic

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21
Q

Severe CNS malformations, growth and mental retardation. Cleft lip and palate, ocular abnormalities, polydactyly, clenched fists and rocker-bottom feet

A

Trisomy 13

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22
Q

This aneuploidy is associated with advanced maternal age; the extra chromosome usually arises from nondisjunction in maternal meiosis I

A

Trisomy 13

23
Q

Mental retardation, failure to thrive, and oftern malformations of heart. Hypertonia common. Fists clench in a characteristic way: 2nd and 5th digits overlapping the 3rd and 4th. Rocker-bottom feet.

A

Trisomy 18

24
Q

Critical region for determining gender

A

SRY (on Y chromosome)

25
Q

A large majority of one or the other (x chromosome) may be inactivated

A

Extreme or unfavorable lyonization

26
Q

Three given examples of inactive X mosaicism in females

A

1) coat color mosaicism (eg calico cats)
2) Glucose-6-Phosphate dehydrogenase (G6PD) deficiency
3) Anhydrotic dysplasia

27
Q

Karyotype of Kleinfelter Syndrome

A

47, XXY (also XXXY and XXXXY)

28
Q

Sexual development can vary widely from abnormal testicular developments and sterility to normal male phenotype. Wide range of intelligence, 2/3 have learning disorders. Tall, lanky appearance with occasional breast enlargement.

A

Kleinfelter Syndrome

29
Q

Are Kleinfelter patients fertile or not?

A

Nonmosaic cases are always sterile.

30
Q

Chromosome lacking a centromere

A

acentric chromosomes

31
Q

Transfer of genetic material from one chromosome to another

A

translocations

32
Q

Involve breaking of at least 2 nonhomologous chromosomes with exchange of fragments

A

reciprocal translocations

33
Q

For unknown reasons, balanced reciprocal translocations involve the long arms of which two chromosomes are relatively common

A

Chromosome 11 and 22

34
Q

What condition does the Philadelphia chromosome cause (reciprocal translocation)

A

chronic myelogenous leukemia

35
Q

Reciprocal translocations between acrocentric chromosomes (13-15, 21, 22) with the loss of the short arms from both participating chromosomes

A

Robertsonian translocations

36
Q

How many chromosomes do you have with Robertsonian translocations?

A

45

37
Q

Most common Robertsonian translocation

A

13q14q

38
Q

Offspring inherits two copies of chromosome 21 plus a translocation chromosome involving chromosome 21

A

Translocation Down Syndrome

39
Q

With translocation down syndrome, unlike trisomy 21, a parent with a balanced translocation is at relatively high risk of…

A

having multiple affected children

40
Q

Three types of chromosome deletions

A

A) terminal deletion
B) interstitial deletion
C) ring chromosome

41
Q

A deletion where the lost part includes an end of the chromosome. When this occurs, the acentric portion is lost while on the centric fragment a telomere forms at the broken end

A

terminal deletions

42
Q

Wolf-Hirschhorn Syndrome (4p-), a type of chromosomal terminal deletion, results in what sort of phenotype

A

Severe mental retardation, failure to thrive. It’s very rare

43
Q

Microcephaly, micrognathia, hypertelorism, high pitched distinctive “mewing” cry, severe mental retardation

A

Cri-du-chat syndrome (5p-)

44
Q

Deletions resulting from two breaks on the same chromosome. Larger fragments can rejoin without middle piece.

A

interstitial deletions

45
Q

Regions of chromosomal loss that can not be detected by routine chromosome banding

A

Microdeletions

46
Q

Microdeletion on 22q11

A

Di George syndrome

47
Q

Segment of one chromosome becomes inserted into another, can be balanced or unbalanced. Rare form of nonreciprocal translocation.

A

Insertions

48
Q

Why are (chromosomal) insertions less common than deletion

A

Requires three chromosomal breaks

49
Q

Formed when a break occurs on each arm of a chromosome leaving two sticky ends on the central portion that reunite as a ring. Two distal chromosomal fragments are lost

A

Ring chromosomes

50
Q

Shows loss of one arm with duplication of the other.

A

Isochromosome

51
Q

Can arise by a breakage process or by mispairing following crossing over. Results in partial trisomies

A

Duplication

52
Q

Two break rearrangement involving a single chromosome in which a segment is reversed in position

A

Inversion

53
Q

Inversion involving the centromere

A

Pericentric inversion

54
Q

Inversion not involving the centromere

A

Paracentric inversion

EoM 3 (10 decks)

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