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Medical Genetics > Clinical Cytogenetics > Flashcards

Clinical Cytogenetics Flashcards

1
Q

What is a metacentric chromosome

A

P equals Q

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2
Q

What is a submetacentric chromosome

A

Q is greater than P

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3
Q

What is an acrocentric chromosome

A

Satellite/non-coding DNA is on the short arm

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4
Q

What type of chromosome has either two Ps or two Qs

A

Isochromosome

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5
Q

What does der stand for? Is it balanced or unbalanced

A

Derivative; unbalanced

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6
Q

What does mos stand for? What does that mean

A

Mosaic which is more than 1 cell type in the body

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7
Q

What does AT rich stain

A

Dark

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8
Q

What does CG rich stain

A

Light

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9
Q

What is high resolution banding

A

Arrest cells in prophase or early metaphase where they are more spread out so you can detect subtle abnormalities

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10
Q

What do fish probes detect

A

Thy target specific regions on specific chromosomes

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11
Q

What does Aneuvysion allow you to do

A

Rapidly analyze for trisomic chromosomes

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12
Q

What chromosomes are often trisomic

A

13,18,21

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13
Q

What does array CGH do

A

Picks up the smallest abnormality

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14
Q

Does array cgh detect balanced gene rearrangements

A

NO

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15
Q

What does a SNP demonstrate at every locus

A

Heterozygosity or homozygosity

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16
Q

What do regions of homozygosity indicate

A

Deletion, parents are related to one another/consanguinity/ recessive disorder… they may not have any clinical significance sometimes though

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17
Q

What is euploidy

A

Any cell that contains a multiple of 23 chromosomes

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18
Q

What splits in meiosis one

A

Homologs

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19
Q

What splits in meiosis 2

A

Sister chromatids

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20
Q

What is nondisjunction

A

Not splitting correctly which can lead to monosomy or trisomy

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21
Q

What are some features of there is excess paternal material in triploidy 21

A

Large placenta, small fetus, partial hydatidiform mole, oligohydramnios, syndactyly, congenital heart defects

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22
Q

What are some features of there is excess maternal material in triploidy 21

A

Small placenta, good fetal development, early loss

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23
Q

If someone is not mosaic in trisomy 21 what usually occurs

A

Neonatal death or loss of pregnancy

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24
Q

What are some clinical features of trisomy 21

A

Palmar crease, hypertelorism, upslanting eyes, midface hypoplasia, tongue thrust, congenital heart defects, moderate disability

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25
Q

Where may be a robertsonian translocation in Down syndrome patients between which two chromosomes

A

14 and 21

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26
Q

What arm of chromosome 14 is chromosome 21 attached to in trisomy 21 the robertsonian version

A

Q arm

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27
Q

What is trisomy 18 aka

A

Edward syndrome

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28
Q

What are some clinical features of trisomy 18

A

Clenched hands, overlapping fingers, rocker bottom feet, mental retardation, heart defects, small jaw, cleft lip, posterior rotation on ears

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29
Q

How long do ppl with trisomy 18 usually live

A

1 year

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30
Q

What is trisomy 13 aka

A

Patau syndrome

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31
Q

What are some clinical features of trisomy 13

A

Midline abnormalities, microencephaly, cleft lip, broad nasal bridge, low ears, intellectual disability

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32
Q

Do most ppl have a baby with trisomy 13 or do they miscarry

A

They miscarry

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33
Q

while most of the causes of nondisjunction are unknown, what are some of the risk factors?

A

hormone levels, smoking, radiation, thyroid disease, alcohol

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34
Q

what is the only known risk factor for nondisjunction

A

maternal age

35
Q

is the extra X in Klinefelter syndrome maternally or paternally derived

A

maternally

36
Q

is the extra X in triple X syndrome maternally or paternally derived

A

maternally

37
Q

what are the clinical manifestations for klinefelter syndrome?

A

small testes, thin body, delayed secondary sex characteristics, gynecomastia, shy, normal IQ

38
Q

what happens if a person has more than 3 X chromosomes

A

there will be problems

39
Q

clinical symptoms of XXX?

A

little/no clinical symptoms, usually incidental finding, rarely have fertility or learning problems

40
Q

clinical symptoms of XYY?

A

little/no symptoms, taller stature, minor learning problems

41
Q

where is the genetic error in XYY?

A

paternal meiosis 2 error

42
Q

what enhances survival in turner syndrome/ monosomy X/ 45X

A

being mosaic

43
Q

clinical symptoms of turner syndrome/monosomy X?

A

short stature, infertility, neck webbing, normal IQ, some have heart and lymphatic problems at birth

44
Q

what is monosomy X aka?

A

turner syndrome, 45X

45
Q

is there a maternal age effect in turner syndrome

A

NO

46
Q

if a female has short stature, they should get a karyotype… what would genetic counselors look for?

A

turner syndrome

47
Q

what chromosome is the deletion on in williams syndrome

A

7

48
Q

what is another name for Phelan McDermid Syndrome

A

22q13 deletion syndrome

49
Q

clinical symptoms of phenal mcdermid syndrome/22q13 deletion syndrome?

A

hypotonia, developmental delay, little/ no speech, larger body size

50
Q

Clinical symptoms of Williams syndrome

A

Raspy voice, intellectual disability, cocktail personality, heart problems, hypercalcemia, starburst pattern on irises, weakness in visual spatial construction

51
Q

What is uniparental disomy

A

When one parent gives two chromosomes

52
Q

What causes uniparental disomy

A

Trisomic rescue, mitotic error

53
Q

What is isodisomy

A

2 copies of the same homolog

54
Q

What is isodisomy an error of

A

Meiosis 2 or mitotic

55
Q

What type of uniparental disomy increases your risk for recessive disease

A

Isodisomy

56
Q

What is heterodisomy

A

One copy of each homolog from one parent

57
Q

What is heterodisomy an error of

A

Meiosis 1

58
Q

Is heterodisomy more common in paternal or material related nondisjunction

A

Maternal

59
Q

Telomeres

A

Repeated information at the end of a chromosome that protects genes

60
Q

What is the Philadelphia chromosome

A

Reciprocal translocation between chromosome 9 and 22

61
Q

What are quadrivalents

A

Pairing of translocation products

62
Q

What are the types of quadrivalents

A

Alternate (1 balanced and 1 normal) or adjacent (2 unbalanced)

63
Q

What is robertsonian translocation

A

Translocation between 2 acrocentric chromosomes that results in a dicentric chromosome

64
Q

What are the 5 acrocentric chromosomes in the human body

A

13,14,15,21,22

65
Q

What part of the chromosome is lost in robertsonian translocation

A

Short arm of both chromosomes

66
Q

What does an acrocentric chromosome have

A

Satellite DNA on the short arms

67
Q

What is CATCH 22

A 
CV abnormalities
Abnormal facies
T cell abnormalities
Cleft palate
Hypocalcemia
68
Q

Do ppl with catch 22 have developmental delay/learning disabilities

A

Yes

69
Q

What is wrong with the karyotype in catch 22

A

Submicroscopic deletion in 22q11.2

70
Q

True or false. Most cases are de novo in catch 22

A

True

71
Q

What disorder do ppl have velopharyngeal insufficiencies like a really nasally voice

A

Catch 22

72
Q

What kind of abnormal facies do ppl with catch 22 have

A

Hypertelorism, prominent ears and nasal root, small mouth, micrognathia (small jaw)

73
Q

What are ring chromosomes

A

Deletions of both ends of the chromosomes so they fuse together

74
Q

Are ring chromosomes usually mosaic

A

Yes

75
Q

Do paracentric inversions involve the centromere

A

No

76
Q

Do pericentric inversions involve the centromere

A

Yes

77
Q

How many centromeres Do the unbalanced products in paracentric inversions

A

Either 2 or 0

78
Q

Are liveborns transmittedbalanced or unbalanced Products in paracentric inversions

A

Balanced

79
Q

What type of inversion has a higher risk of infertility? Why?

A

Paracentric because of the invisible gametes

80
Q

What are isochromosomes

A

Two copies of one arm and none of the other due to incorrect axis separation

81
Q

What chromosomes are isochromosomes lethal in? What are they viable one?

A

Lethal in autosomes

Viable in sex chromosomes

82
Q

What do features of rare chromosome abnormalities depend on

A

What chromosomes are involved and how much genetic material is missing or added

83
Q

If patients have a rare chromosome abnormality what are they diagnosed with

A

Where chromosome abnormality

84
Q

What is the management for rare chromosome abnormalities

A

Early intervention because they have a high risk for developmental disability

Medical Genetics (15 decks)

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