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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
Q

How can t(9;22) be treated?

A

Tyrosine kinase inhibitor (Ex. Gleevec)

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26
Q

In a _______ translocation, there are ___ ways to segregate the trivalent; ___ of the ways produce(s) balanced and normal offspring.

A

Robertsonian; 3; 1

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27
Q

In an _______ translocation, both centromeres from the same original chromosomes migrate to the same poles.

A

Adjacent-2

28
Q

In an _______ translocation, one centromere from each of the original chromosomes migrates to each pole.

A

Adjacent-1

29
Q

In an _______ translocation, two normal chromosomes migrate to one pole, and two abnormal chromosomes migrate to the other pole.

A

Alternate

30
Q

Marie-Charcot-Tooth is caused by what abnormality?

A

dup17p11.2

31
Q

Microsatellites may also be called _______.

A

Small Tandem Repeats (STRs)

32
Q

Minisatellites and microsatellites are best described as _______ polymorphisms

A

insertion-deletion

33
Q

Minisatellites may also be called _______

A

Variable Number Tandem Repeats (VNTRs)

34
Q

The observation of genome-wide association studies that implicate loci but account for only a small percent of genomic contribution is referred to as _______.

A

Missing heritability

35
Q

The person through whom a genetic disorder is brought to attention is referred to as the _______

A

proband

36
Q

The person who brings the family to attention is referred to as the _______

A

consultand

37
Q

Trisomy 13 is also called _______

A

Patau Syndrome

38
Q

Trisomy 21 is also called _______

A

Down Syndrome

39
Q

Velocardiofacial Syndrome and DiGeorge Syndrome are both caused by what abnormality?

A

del22q11

40
Q

What are the two types of insertion-deletion polymorphisms?

A

Minisatellites and microsatellites

41
Q

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?

A

Trisomy 13/Patau Syndrome

42
Q

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?

A

Trisomy 21/Down Syndrome

43
Q

What disorder is caused by 46,XY,der(14;21)+21?

A

Down Syndrome

44
Q

What disorder is caused by 46,XY,i(21),+21?

A

Down Syndrome

45
Q

What disorder is caused by 47,XY,+21?

A

Down Syndrome

46
Q

What disorder is caused by an interstitial duplication of 15q?

A

Autism

47
Q

What disorder is caused by deletion of 17p11.2?

A

Hereditary Neuropathy with Predisposition to Pressure Palsy

48
Q

What disorder is caused by duplication of 17p11.2 ?

A

Marie-Charcot-Tooth

49
Q

What disorder is caused by IDIC 15q?

A

Autism

50
Q

What disorder is caused by t(15;17)?

A

Acute Promyeloid Leukemia (APML)

51
Q

What disorder is caused by t(9;22)?

A

Chronic Myelogenous Leukemia (CML)

52
Q

What disorder is characterized by hypotonia, dysmorphic features, undescended testes, hyperphagia that develops around preschool age, short stature, developmental delay, strabismus, and nystagmus?

A

Prader-Willi Syndrome

53
Q

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?

A

Angelman Syndrome

54
Q

What disorder is characterized by strabismus, nystagmus, scoliosis, and obstructive sleep apnea?

A

Prader-Willi Syndrome

55
Q

What disorder may be caused by a UBE 3A mutation?

A

Angelman Syndrome

56
Q

What is Mendel’s law that states: alleles segregate into the games at meiosis?

A

Law of Segregation

57
Q

What is Mendel’s law that states: the segregation of each pair of alleles is independent (segregation of chromosomes is random)?

A

Law of Independent Assortment

58
Q

What type of leukemia is characterized by high hyperdiploidy in FISH studies?

A

Acute Lymphoblastic Leukemia (ALL)

59
Q

Which disorder is caused by a missing maternal copy of 15q11-13?

A

Angelman Syndrome

60
Q

Which disorder is caused by a missing paternal copy of 15q11-13?

A

Prader-Willi Syndrome

61
Q

Which disorder is caused by del22q11?

A

Velocardiofacial Syndrome and DiGeorge Syndrome

62
Q

Which disorder is caused by deletion of peripheral myelin protein 22?

A

Hereditary Neuropathy with Predisposition to Pressure Palsy

63
Q

Which disorder is characterized by absent or hypoplastic thymus and parathyroids, and congenital heart disease (outflow tract defects)?

A

DiGeorge Syndrome

64
Q

Which disorder is characterized by cleft Palate, lateral nasal buildup, and cardiac septal defects?

A

Velocardiofacial Syndrome

65
Q

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?

A

Marie-Charcot-Tooth

66
Q

Which DNA sequence is affected in Prader-Willi Syndrome and Angelman Syndrome?

A

15q11-13

Molecules to Medicine (5 decks)

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