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Molecules to Medicine > Unit 2 - Week 1 > Flashcards

Unit 2 - Week 1 Flashcards

1
Q

____ (type of repetitive DNA) may be important in chromosome segregation.

A

alpha-satellite sequence

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2
Q

_____ are appropriate Down Syndrome screening methods during the first trimester.

A

Beta-hCG and PAPP-A

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3
Q

_____ are appropriate Down Syndrome screening methods during the second trimester.

A

Quad screen: Beta-hCG, Alpha-Fetoprotein (AFP), unconjugated estriol, inhibin

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4
Q

_____ inversions do not include the centromere.

A

Paracentric

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5
Q

_____ inversions include the centromere.

A

Pericentric

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6
Q

______ translocation pathways occur only 5-10% of the time.

A

Adjacent-1 and Adjacent-2

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7
Q

_______ are composed of genes with high sequence similarity (>__%) that may carry out similar but distinct functions.

A

Gene families; 85%

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8
Q

_______ are di- or tri- nucleotide repeats that occur about 50,000 times throughout a genome

A

Microsatellites

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9
Q

_______ are tandemly repeated sequences of 10-100bp.

A

Minisatellites

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10
Q

_______ are the basis for cytogenetic banding.

A

Tandem repeats

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11
Q

_______ detects chromosomal duplications and deletions in known “hot spots” to look for amount of DNA sequence present.

A

Chromosomal Microarray Analysis (CMA)

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12
Q

_______ FISH probes are used for enumeration leukemias, also called an ___ panel.

A

Centromere; ALL

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13
Q

_______ FISH probes are used to detect insertions/deletions such as in ___

A

Locus Specific; p53

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14
Q

_______ FISH probes are used to detect translocation leukemias, including _______.

A

Fusion/Dual fusion; CML and APML

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15
Q

_______ inversions result in gamete chromosomes that may be acentric.

A

Paracentric

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16
Q

_______ translocations result in partial monosomy and partial trisomy

A

Adjacent-1 and Adjacent-2

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17
Q

A ______ is a chromosome in which one arm is missing and the other arm is duplicated.

A

isochromosome

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18
Q

AT rich regions account for ___% of the DNA sequence.

A

54%

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19
Q

CG rich regions account for ___% of the DNA sequence.

A

38%

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20
Q

Couples with at least one known ancestor in common may be called _______ matings.

A

consanguinous

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21
Q

Hereditary Neuropathy with Predisposition to Pressure Palsy is caused by what abnormality?

A

del17p11.2

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22
Q

How can Acute Promyeloid Leukemia (APML) be treated?

A

Retinoic acid treatments

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23
Q

How can Chronic Myelogenous Leukemia (CML) be treated?

A

Tyrosine kinase inhibitor (Ex. Gleevec)

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24
Q

How can t(15;17) be treated?

A

Retinoic acid treatments

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25
How can t(9;22) be treated?
Tyrosine kinase inhibitor (Ex. Gleevec)
26
In a _______ translocation, there are ___ ways to segregate the trivalent; ___ of the ways produce(s) balanced and normal offspring.
Robertsonian; 3; 1
27
In an _______ translocation, both centromeres from the same original chromosomes migrate to the same poles.
Adjacent-2
28
In an _______ translocation, one centromere from each of the original chromosomes migrates to each pole.
Adjacent-1
29
In an _______ translocation, two normal chromosomes migrate to one pole, and two abnormal chromosomes migrate to the other pole.
Alternate
30
Marie-Charcot-Tooth is caused by what abnormality?
dup17p11.2
31
Microsatellites may also be called _______.
Small Tandem Repeats (STRs)
32
Minisatellites and microsatellites are best described as _______ polymorphisms
insertion-deletion
33
Minisatellites may also be called _______
Variable Number Tandem Repeats (VNTRs)
34
The observation of genome-wide association studies that implicate loci but account for only a small percent of genomic contribution is referred to as _______.
Missing heritability
35
The person through whom a genetic disorder is brought to attention is referred to as the _______
proband
36
The person who brings the family to attention is referred to as the _______
consultand
37
Trisomy 13 is also called _______
Patau Syndrome
38
Trisomy 21 is also called _______
Down Syndrome
39
Velocardiofacial Syndrome and DiGeorge Syndrome are both caused by what abnormality?
del22q11
40
What are the two types of insertion-deletion polymorphisms?
Minisatellites and microsatellites
41
What chromosomal abnormality is characterized by normal or deficient growth, CNS abnormalities (holoprocencephaly, severe intellectual disabilities), facial cleft, polydactyly, renal dysplasia, Congenital Heart Disease, omphalocele, and dermal defects?
Trisomy 13/Patau Syndrome
42
What chromosomal abnormality is characterized by short stature, intellectual disabilities, hypotonia, dysmorphic features (characteristic faces, short transverse fingers, palmar crease, clinodactyly, wide sandal gap), congenital heart disease, GI abnormalities, and Early onset Alzheimer’s Disease?
Trisomy 21/Down Syndrome
43
What disorder is caused by 46,XY,der(14;21)+21?
Down Syndrome
44
What disorder is caused by 46,XY,i(21),+21?
Down Syndrome
45
What disorder is caused by 47,XY,+21?
Down Syndrome
46
What disorder is caused by an interstitial duplication of 15q?
Autism
47
What disorder is caused by deletion of 17p11.2?
Hereditary Neuropathy with Predisposition to Pressure Palsy
48
What disorder is caused by duplication of 17p11.2 ?
Marie-Charcot-Tooth
49
What disorder is caused by IDIC 15q?
Autism
50
What disorder is caused by t(15;17)?
Acute Promyeloid Leukemia (APML)
51
What disorder is caused by t(9;22)?
Chronic Myelogenous Leukemia (CML)
52
What disorder is characterized by hypotonia, dysmorphic features, undescended testes, hyperphagia that develops around preschool age, short stature, developmental delay, strabismus, and nystagmus?
Prader-Willi Syndrome
53
What disorder is characterized by mildly dysmorphic features which evolve with age, hypotonia in infancy progressing to spasticity in older patients, intellectual disabilities (much more severe than Prader-Willi), severe seizures, and autism?
Angelman Syndrome
54
What disorder is characterized by strabismus, nystagmus, scoliosis, and obstructive sleep apnea?
Prader-Willi Syndrome
55
What disorder may be caused by a UBE 3A mutation?
Angelman Syndrome
56
What is Mendel's law that states: alleles segregate into the games at meiosis?
Law of Segregation
57
What is Mendel's law that states: the segregation of each pair of alleles is independent (segregation of chromosomes is random)?
Law of Independent Assortment
58
What type of leukemia is characterized by high hyperdiploidy in FISH studies?
Acute Lymphoblastic Leukemia (ALL)
59
Which disorder is caused by a missing maternal copy of 15q11-13?
Angelman Syndrome
60
Which disorder is caused by a missing paternal copy of 15q11-13?
Prader-Willi Syndrome
61
Which disorder is caused by del22q11?
Velocardiofacial Syndrome and DiGeorge Syndrome
62
Which disorder is caused by deletion of peripheral myelin protein 22?
Hereditary Neuropathy with Predisposition to Pressure Palsy
63
Which disorder is characterized by absent or hypoplastic thymus and parathyroids, and congenital heart disease (outflow tract defects)?
DiGeorge Syndrome
64
Which disorder is characterized by cleft Palate, lateral nasal buildup, and cardiac septal defects?
Velocardiofacial Syndrome
65
Which disorder is characterized by weakness of the foot and lower leg muscles, foot deformities known as hammertoes, and weakness and muscle atrophy of the hands late in the course of the disease?
Marie-Charcot-Tooth
66
Which DNA sequence is affected in Prader-Willi Syndrome and Angelman Syndrome?
15q11-13

Molecules to Medicine (5 decks)

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