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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
Where may be a robertsonian translocation in Down syndrome patients between which two chromosomes
14 and 21
26
What arm of chromosome 14 is chromosome 21 attached to in trisomy 21 the robertsonian version
Q arm
27
What is trisomy 18 aka
Edward syndrome
28
What are some clinical features of trisomy 18
Clenched hands, overlapping fingers, rocker bottom feet, mental retardation, heart defects, small jaw, cleft lip, posterior rotation on ears
29
How long do ppl with trisomy 18 usually live
1 year
30
What is trisomy 13 aka
Patau syndrome
31
What are some clinical features of trisomy 13
Midline abnormalities, microencephaly, cleft lip, broad nasal bridge, low ears, intellectual disability
32
Do most ppl have a baby with trisomy 13 or do they miscarry
They miscarry
33
while most of the causes of nondisjunction are unknown, what are some of the risk factors?
hormone levels, smoking, radiation, thyroid disease, alcohol
34
what is the only known risk factor for nondisjunction
maternal age
35
is the extra X in Klinefelter syndrome maternally or paternally derived
maternally
36
is the extra X in triple X syndrome maternally or paternally derived
maternally
37
what are the clinical manifestations for klinefelter syndrome?
small testes, thin body, delayed secondary sex characteristics, gynecomastia, shy, normal IQ
38
what happens if a person has more than 3 X chromosomes
there will be problems
39
clinical symptoms of XXX?
little/no clinical symptoms, usually incidental finding, rarely have fertility or learning problems
40
clinical symptoms of XYY?
little/no symptoms, taller stature, minor learning problems
41
where is the genetic error in XYY?
paternal meiosis 2 error
42
what enhances survival in turner syndrome/ monosomy X/ 45X
being mosaic
43
clinical symptoms of turner syndrome/monosomy X?
short stature, infertility, neck webbing, normal IQ, some have heart and lymphatic problems at birth
44
what is monosomy X aka?
turner syndrome, 45X
45
is there a maternal age effect in turner syndrome
NO
46
if a female has short stature, they should get a karyotype... what would genetic counselors look for?
turner syndrome
47
what chromosome is the deletion on in williams syndrome
7
48
what is another name for Phelan McDermid Syndrome
22q13 deletion syndrome
49
clinical symptoms of phenal mcdermid syndrome/22q13 deletion syndrome?
hypotonia, developmental delay, little/ no speech, larger body size
50
Clinical symptoms of Williams syndrome
Raspy voice, intellectual disability, cocktail personality, heart problems, hypercalcemia, starburst pattern on irises, weakness in visual spatial construction
51
What is uniparental disomy
When one parent gives two chromosomes
52
What causes uniparental disomy
Trisomic rescue, mitotic error
53
What is isodisomy
2 copies of the same homolog
54
What is isodisomy an error of
Meiosis 2 or mitotic
55
What type of uniparental disomy increases your risk for recessive disease
Isodisomy
56
What is heterodisomy
One copy of each homolog from one parent
57
What is heterodisomy an error of
Meiosis 1
58
Is heterodisomy more common in paternal or material related nondisjunction
Maternal
59
Telomeres
Repeated information at the end of a chromosome that protects genes
60
What is the Philadelphia chromosome
Reciprocal translocation between chromosome 9 and 22
61
What are quadrivalents
Pairing of translocation products
62
What are the types of quadrivalents
Alternate (1 balanced and 1 normal) or adjacent (2 unbalanced)
63
What is robertsonian translocation
Translocation between 2 acrocentric chromosomes that results in a dicentric chromosome
64
What are the 5 acrocentric chromosomes in the human body
13,14,15,21,22
65
What part of the chromosome is lost in robertsonian translocation
Short arm of both chromosomes
66
What does an acrocentric chromosome have
Satellite DNA on the short arms
67
What is CATCH 22
``` CV abnormalities Abnormal facies T cell abnormalities Cleft palate Hypocalcemia ```
68
Do ppl with catch 22 have developmental delay/learning disabilities
Yes
69
What is wrong with the karyotype in catch 22
Submicroscopic deletion in 22q11.2
70
True or false. Most cases are de novo in catch 22
True
71
What disorder do ppl have velopharyngeal insufficiencies like a really nasally voice
Catch 22
72
What kind of abnormal facies do ppl with catch 22 have
Hypertelorism, prominent ears and nasal root, small mouth, micrognathia (small jaw)
73
What are ring chromosomes
Deletions of both ends of the chromosomes so they fuse together
74
Are ring chromosomes usually mosaic
Yes
75
Do paracentric inversions involve the centromere
No
76
Do pericentric inversions involve the centromere
Yes
77
How many centromeres Do the unbalanced products in paracentric inversions
Either 2 or 0
78
Are liveborns transmittedbalanced or unbalanced Products in paracentric inversions
Balanced
79
What type of inversion has a higher risk of infertility? Why?
Paracentric because of the invisible gametes
80
What are isochromosomes
Two copies of one arm and none of the other due to incorrect axis separation
81
What chromosomes are isochromosomes lethal in? What are they viable one?
Lethal in autosomes | Viable in sex chromosomes
82
What do features of rare chromosome abnormalities depend on
What chromosomes are involved and how much genetic material is missing or added
83
If patients have a rare chromosome abnormality what are they diagnosed with
Where chromosome abnormality
84
What is the management for rare chromosome abnormalities
Early intervention because they have a high risk for developmental disability

Medical Genetics (15 decks)

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