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Clinical Pathology > Exam III-Part II Genetic Pathologies > Flashcards

Exam III-Part II Genetic Pathologies Flashcards

1
Q

What is another name for Trisomy 21?

A

Down Syndrome

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2
Q

What is another name for Trisomy 18?

A

Edward Syndrome

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3
Q

What is another name for Trisomy 13?

A

Pat-au Syndrome

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4
Q

Trisomy Physical Characteristics: Overlapping Fingers

A

Trisomy 18-Edward Syndrome

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5
Q

Trisomy Physical Characteristics: Renal Abnormalities (2)

A

Trisomy 18-Edward Syndrome & 13 -Patau

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6
Q

Trisomy Physical Characteristics: Rocker Bottom Feet (2)

A

Trisomy 18- Edward & Trisomy 13-Patau

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7
Q

Trisomy Physical Characteristics: Prominent Occiput

A

18-Edward

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8
Q

Trisomy Physical Characteristics: Flat Occiput

A

21-Down

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9
Q

Trisomy Physical Characteristics: OVERLAPPING fingers

A

Trisomy 18-Edward

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10
Q

Trisomy Physical Characteristics: Congenital Heart Defects & Mental Retardation (3)

A

13,18,21 (all three dawg)

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11
Q

Trisomy Physical Characteristics: MicroEncephaly

A

Trisomy 13 - Patau

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12
Q

Trisomy Physical Characteristics: PolyDactyl

A

Trisomy 13 - Patau

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13
Q

Trisomy Physical Characteristics: Umbilical Hernia (2)

A

Trisomy 13 and 21 (MOSTLY 21)

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14
Q

Trisomy Physical Characteristics: Cleft Lip/ Palate

A

Trisomy 13-Patau

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15
Q

Trisomy Physical Characteristics: Fused Toes

A

Trisomy 13 - Patau

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16
Q

Trisomy Physical Characteristics: Ventricular Septal Defect/ Atrial Septal Defect

A

Trisomy 21-Down

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17
Q

Trisomy Physical Characteristics: Atresias of esophagus/small bowel

A

Trisomy 21-Down

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18
Q

Trisomy Physical Characteristics: MegaColon

A

Trisomy 21-Down

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19
Q

Trisomy Physical Characteristics: Gap Between Toes

A

Trisomy 21-Down

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20
Q

Trisomy Physical Characteristics: Hypotonia

A

21-Down

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21
Q

Trisomy Physical Characteristics: Simian Crease

A

21-Down

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22
Q

Trisomy Physical Characteristics: Promenant Epicanthal Fold & Oblique Palpebral Fissures

A

21-Down

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23
Q

Trisomy Physical Characteristics: Protruding Tongue

A

21-Down

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24
Q

Trisomy Physical Characteristics: Brushfield Spots

A

21-Down

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25
Q

Trisomy Physical Characteristics: Flat Occiput

A

21-Down

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26
Q

Trisomy Physical Characteristics: Acute Leukemias

A

21-Down

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27
Q

What is the genetics of Cri Du Chat Syndrome?

A

Deletion of the Short arm (p) of chromosome #5…Official Scientific Notation: (5p-)

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28
Q

What is the sex genotype for Klinefelter’s syndrome?

A

XXY

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29
Q

What is the sex genotype for Turner’s syndrome?

A

XO

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30
Q

Which syndrome has a genotype of XO?

A

Turner’s Syndrome

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31
Q

Which syndrome has a genotype of XXY?

A

Klinefelter’s Syndrome

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32
Q

Klinefelter Syndrome is best defined as male __________ (one of the most common causes) and occurs when there are two or more ___ chromosomes and one or more ____ chromosome.

A

hypogonadism..2 or more X and one or more Y

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33
Q

Which syndrome? It is rarely diagnosed before puberty because the testicular abnormality does not develop until the early teens.

A

Klinefelter

34
Q

Which Syndrome?: Most patients have a eunuchoid body habitus with long legs which creates the appearance of an elongated body with small atrophic testes, a small penis, and lack of secondary sex characteristics (deep voice, beard voice and male distribution of pubic hair.

A

Klinefelter Syndrome

35
Q

In Klinefelter Syndrome, the hypogonadism is the most consistent finding, the plasma _____ levels are consistently elevated and the ______ levels are reduced.

A

FSH….testosterone

36
Q

Which syndrome? The pathology relates to reduced spermatogenesis and male infertility. The testicular tubules are totally atrophied, and replaced by pink, hyaline, collagenous shells.

A

Klinefelters

37
Q

Who is to blame for Klinefelters? Mom or dad?

A

its 50/50!!

38
Q

What is Characterized by hypogonadism in phenotypic females, and is the most common sex chromosome abnormality in females?

A

Turner Syndrome

39
Q

Which syndrome? Clinical features includes short stature, rarely exceeding 150cm. in height.

A

Turner Syndrome

40
Q

________ Syndrome is the single most important cause of primary amenorrhea, accounting for 1/3 of the cases.

A

Turner Syndrome

41
Q

Which syndrome is MALE hypogonadism?

A

Klinefelter (has a penis) XXY

42
Q

Which syndrome is a FEMALE hypogonadism?

A

Turner (has ovaries) XO

43
Q

Which syndrome? Pt’s present during infancy with edema (due to lymph stasis) of the dorsum of the hands and feet.

A

Turner

44
Q

BIG ONE: In Turner Syndrome: There is ______ of the neck due to distended lymphatic channels, producing the so-called ________. As these infants grow older, the webbing can become a persistent looseness of skin on the back of the neck.

A

webbing…ON TEST—cystic hygroma—ON TEST

45
Q

Which syndrome? Broad-shaped chest with widely-spaced nipples

A

Turner

46
Q

Which syndrome? Pigmented nevi on the skin of the extremities and trunk.

A

Turner

47
Q

Which syndrome? Abnormal carrying angle of the arm, called _________.

A

cubitus valgus

48
Q

BIGGIE: Turner Syndrome: Congenital heart defects are common, particularly _________!!! and bicuspid aortic valves.

A

coarctation of the aorta!!!!

49
Q

What are the single most important cause of increased mortality in Turner’s girls?

A

CARDIOVASCULAR abnormalities

50
Q

Turner Syndrome: At puberty, there is failure to develop normal secondary sex characteristics-the genitalia remains infantile, breast development is inadequate, there is little pubic hair, and the ovaries are reduced to atrophic, fibrous strands (_________), resulting in infertility.

A

streak ovaries

51
Q

Which syndrome has Hypothyroidism associated with it?

A

50% of pt get Turner Syndrome

52
Q

In Turners Syndrome, fetal ovaries develop normally early in embryogenesis, but the absence of the second X chromosome leads to an accelerated loss of ______, which is complete by the age of _____ years. _______ occurs before menarche in other words.

A

oocytes..two..Menopause

53
Q

Huntington’s Diease is an ________ ________ genetic disorder.

A

Autosomal Dominant

54
Q

HD: Characterized by __________ of all parts of the body, with deterioration of _________, and severe ________ disturbances.

A

involuntary movements….cognitive…emotional

55
Q

What is the only race HD affects?

A

Whites of NW Europe decent

56
Q

Which chromosome is the Huntington gene found on?

A

Chromosome 4

57
Q

What is the altered protein made in Huntingtons?

A

“Huntingtin”

58
Q

HD is one of the purest examples of a true _______ completely _______ disorder (heterozygotes do not differ clinincally)

A

autosomal….dominant

59
Q

Marfan’s Syndrome is _________ (type of genetic disorder), and is related to the dysfunction of a gene on chromosome ___ that codes for _______, a connective tissue protein essential for the maintenance of tissue structure of various organs.

A

autosomal dominant…chromosome 15…Fibrillin

60
Q

Marfan syndrome is a disorder of ________ of the body.

A

connective tissues

61
Q

Which autosomal dominant disorder has EXTREME PAIN AND DEATH through a DISSECTING AORTIC ANEURYSM?

A

Marfan’s Syndrome

62
Q

What are the 3 organ systems involved with Marfan Syndrome?

A

CONNECTIVE TISSUE therefore: 1. Skeletal 2.Cardiovascular (dissecting aortic aneurysm) 3. Eyes

63
Q

What is the protein deficiency with Marfan’s Syndrome?

A

Fibrilin (tendon and vessel walls)

64
Q

What type of genetic disease is Cystic Fibrosis? What chromosome?

A

Autosomal Recessive..Chromosome 7

65
Q

What are the 3 organs involved in Cystic Fibrosis?

A

Pancreas, Intestines, Lungs

66
Q

What Gram - bacteria do you worry about with cystic fibrosis?

A

Pseudomonas aeruginosa!!!

67
Q

What disease uses the sweat test?

A

Cystic Fibrosis

68
Q

What type of genetic disorder is Osteogenesis Imperfecta? What are the two genes affected? What do the genes code for?

A

Autosomal Dominant…COL1A1 & COL1A2–>code for Procollagen

69
Q

Where are the O.I. genes located? hint: two different chromosomes..

A

COL1A1: Chromosome 17…..COL1A2: Chromosome 7

70
Q

What is the layman’s term for O.I.?

A

Brittle Bone Disease

71
Q

Since O.I. affects both dentine and pulp, what are the two visible malformations in the teeth?

A
  1. Bluish-Yellow in color 2. Misshapen
72
Q

What is the most common form of inherited mental retardation due to a defect on the long arm of the X Chromosome AND is Second only to Trisomy 21 as an identifiable cause of mental retardation?

A

Fragile X Syndrome!

73
Q

Fragile X: The locus at X_27 is associated with mental retardation due to a repeat of an amino acid sequence (_____ repeat at the fragile site)

A

Xq27..CGG repeat

74
Q

What syndrome? The male newborns afflicted appear normal, but during childhood, certain characteristics begin to appear: Increased Head Circumference, Facial Coarsening, Joint, Hyperextensibility Enlarged Testes, Abnormalities of the Cardiac Valves

A

Fragile X

75
Q

What % of Female carriers of Fragile X are intellectually normal?

A

2/3

76
Q

What type of genetic disease is Duchenne Muscular Dystrophy?

A

X-linked Recessive

77
Q

Mutations within the DuchMuscDys gene can either be ______ or occur _________!

A

inherited or occur spontaneously!

78
Q

For DMD: In general, only ______ are afflicted although ______ may be carriers.

A

MALES affected…females may be carriers

79
Q

What is the protein that DMD codes for which provides stability in the muscle sarcolemma?

A

DystroPhin

80
Q

In DMD: A positive ________: the child helps himself to get up with his upper extremities: first by rising to stand on his arms and knees, and then “walking” his hands up his legs to stand upright.

A

GOWER SIGN

Clinical Pathology (5 decks)

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