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Path Section II exam > Genetic diseases I > Flashcards

Genetic diseases I Flashcards

1
Q

Derived from ones parents and transmitted through the gametes

A

Hereditary

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2
Q

Origin of defect

A

Hereditary

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3
Q

How many generations have had defect; can be expressed or not expressed

A

Familial

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4
Q

Genetic disease that occurs sporadically

A

Familial

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5
Q

Any abnormality present at birth

A

Congenital

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6
Q

mutation of a single gene of large effect

A

mendelian disorder

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7
Q

disorders with multiple genes as well environmental influences

A

Complex Multigenic Disorder

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8
Q

Disorders with multifactorial inheritance

A

Complex Multigenic Disorders

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9
Q

disorder where phenotypic expression is related to the combined effects of environmental influences and multiple genes of small effects (polygenic inheritance )

A

Complex multigenic disorders

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10
Q

diseases arising from chromosomal aberrations that are identifiable on karyotype

A

Cytogenic Disorders (Chromosomal Disorders)

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11
Q

ingle-gene Disorders with Atypical Patterns of Inheritance

A
  1. single gene defects that do not follow Mendelian patterns of inheritance
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12
Q

What are examples of single gene disorders w/ atypical patterns of inheritance?

A

a. Triplet repeat mutations and mutations in mitochondrial genes
b. Disorder with genomic imprinting – transmission is influenced by epigenetic phenomena

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13
Q

A karyotype is constructed from photographic images of patient cells in

A

Metaphase

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14
Q

What stain is widely used as the G banding technique?

A

Giemsa stain

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15
Q

Karyotypes can be performed on children and adults by culturing what types of cells?

A

Lymphocytes from the peripheral blood

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16
Q

Karyotypes can be performed on fetuses by culture of what cells?

A

Fetal fibroblasts from amniotic fluid or placental sampling

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17
Q

primary constriction

A

centromere

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18
Q

Short arm=

A

up arm-“p” for petit

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19
Q

Long arm

A

down arm “q”

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20
Q

Satellite

A

at ends of p

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21
Q

“p” and “q” arms are of equal length.

A

Metacentric

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22
Q

“p” arm is shorter than “q” arm.

A

Submetacentric

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23
Q

“p” arms are very short and have satellites

A

Acrocentric

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24
Q

How is a karyotype arranged?

A

Metacentric-> subcentric-> acrosentric->sex-chromosomes (acrocentric)

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25
Q

When is the earliest amniocentesis can be performed?

A

15 weeks

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26
Q

Which test can be performed at 10 weeks?

A

Chorionic villi sample

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27
Q

any exact multiple of the haploid number

A

Euploid

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28
Q

multiples of the haploid number beyond 2n, such as 3n, 4n, 5n, etc.

A

Polyploid

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29
Q

a. any number of chromosomes that is not an exact multiple of n
Examples – (n + 1), (n - 1), (2n + 1), (2n - 1)

A

Aneuploidy

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30
Q

defined as two or more karyotypic populations of cells in the same individual. Occurs more commonly involving the sex chromosomes.

A

Mosaicism

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31
Q

What are the 2 types of translocations?

A
  1. Balanced reciprocal translocation

2. Robertsonian translocation or centric fusion

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32
Q

1) fragments are exchanged between two chromosomes and no genetic material is lost.

A

Balanced reciprocal translocation

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33
Q

reciprocal translocation that always occurs between two acrocentric chromosomes

A

Robertsonian translocation or centric fusion

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34
Q

in which translocation do we ALWAYS get loss of genetic material?

A

Robertsonian translocation (centric fusion)

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35
Q

a. Centromere divides transversely so that the two short arms are paired and the two long arms are paired.

A

Isochromosomes

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36
Q

Loss of a portion of a chromosome

A

deletion

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37
Q

What is worse having extra chromosomes or missing chromosomes?

A

missing

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38
Q

1) One chromosome breaks, then the broken segment makes a complete turnaround and reattaches to the original chromosome.

A

inversions

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39
Q

what are the 2 patterns of inversion?

A

Paracentric and pericentric

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40
Q

have both breaks on the same side

A

paracentric

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41
Q

have breaks on either side of the centromere

A

pericentric

42
Q

which chromosome aberrations have structural abnormalities?

A 
Translocations
isochromosomes 
deletions 
inversions 
ring chromosomes
43
Q

which chromosome aberrations have numerical abnormalities?

A

Polyploid
aneuploidy
mosaicism

44
Q

2 or more distinct karyotypic cell populations in the same individual

A

Mosaicism

45
Q

mosaicism is an abnormality that occurs due to what?

A

Nondisjunction

46
Q

deletion that occurs at both ends of a single chromosome, then damaged ends fuse

A

Ring chromosome

47
Q

what are abnormalities that create re-arranged material?

A

Translocations and inversions

48
Q

Abnormalities involving ____are generally more severe than defects involving _____________

A

Autosomes

sex chromosomes

49
Q

a missing ______ is not compatible with life

A

autosome

50
Q

how do most cytogenic disorders arise?

A

arise De Novo in the gametes

51
Q

disorder is neither in the parental line nor is it familial

A

cytogenic disorder

52
Q

chromosomal abnormality arises during gametogenesis

A

cytogenic disorders

53
Q

What are the cytogenic disorders involving autosomes?

A

Trisomy 21- Down syndrome
Trisomy 18- Edwards syndrome
Trisomy 13- Patau syndrome

54
Q

incidence 1: 1700 live births

A

Down syndrome

55
Q

47XX +21 or 47XY+21

A

down syndrome

56
Q

% of down syndrome caused by translocation?

A

4%

57
Q

% of down syndrome mosaics

A

1%

58
Q

46XX/47 XX +21

A

down syndrome mosaics

59
Q

what tests do you use to diagnose Down syndrome?

A

First trimester screening test and Karyotyping

60
Q

identifies polymorphicgenetic markers of fetal free DNA in maternal blood

A

First trimester screening test

61
Q

when is the first trimester screening test done?

A

11-13 weeks gestation

62
Q

which disorder has horizontal palmar crease/ simian crease?

A

down syndrome

63
Q

which disorder has hypotonia?

A

down syndrome

64
Q

which disorder has congenital heart defects?

e.g.atrial septal defect

A

down syndrome

65
Q

which disorder has high risk for developing Alzheimer’s?

A

Down syndrome

66
Q

which disorder has late face and epicentral folds?

A

down syndrome

67
Q

what are the most common causes of death for down syndrome?

A
  • heart defects
  • infections
  • leukemia
68
Q

what is the median life expectancy for DS?

A

60 years old

69
Q

which disorder has predisposition for autoimmune thyroid disease-> hypothyroidism?

A

down syndrome

70
Q

incidence 1:8,000 live births

A

edwards syndrome

71
Q

47,XY,+18 or 47,XX,+18

A

edwards syndrome

72
Q

which disorder displays prominent occiput?

A

Edwards syndrome

73
Q

which disorder displays micrognathia?

A

Edwards syndrome

74
Q

which disorder displays hypertonicity?

A

Edwards syndrome

75
Q

which disorder displays horse shoe kidney?

A

Edwards syndrome

76
Q

which disorder displays crossed fingers

A

Edwards syndrome

77
Q

which natural position in edwards syndrome persists in death?

A

crossed fingers

78
Q

which disorders display rocker bottom feet?

A

edwards and patau

79
Q

Incidence 1:15,000live births

A

Patau syndrome

80
Q

47,XX,+13 or 47,XY,+13

A

Patau syndrome

81
Q

which disorder displays microcephaly?

A

Patau syndrome

82
Q

which disorder displays micropthalmia?

A

Patau syndrome

83
Q

which disorder presents with cleft lip and cleft palate?

A

Patau syndrome

84
Q

which disorder presents with polydactyly

A

Patau syndrome

85
Q

what are the cytogenic disorders involving sex chromosomes?

A

Klinefelter syndrome

Turners syndrome

86
Q

incidence 1:1,000 to 1: 1500 live male births

A

Kleinfelter syndrome

87
Q

up to 15% mosaics

A

Kleinfelter syndrome

88
Q

which syndromes have hypogonadism?

A

Kleinfelter syndrome and turners syndrome

89
Q

Small testes
low testosterone
elevated urine are clinical features of what disorder?

A

Kleinfelter syndrome

90
Q

breast development in men

A

gynecomastia inKleinfelter syndrome

91
Q

Elongated body appearance -long legs particularly in femur

A

Kleinfelter syndrome

92
Q

mild decreased intelligence relative to other family members

A

Kleinfelter syndrome

93
Q

increased risk for breast cancer, extragonadal germ cell tumors and autoimmune disease

A

Kleinfelter syndrome

94
Q

incidence 1: 2,500-1:2,000 live female births

A

Turners syndrome

95
Q

Monosomy-only one sex chromosome

A

Turners syndrome

96
Q

45X

A

Turners syndrome

97
Q

% mosaics in turners syndrome?

A

43%

98
Q

possible problems with cystic hydromas?

A

Turners syndrome

99
Q

which syndrome manifest short stature?

A

Turners syndrome

100
Q

Webbed neck and low posterior hair line

A

Turners syndrome

101
Q

broad (shield) chest

A

Turners syndrome

102
Q

coartaction of aorta

A

Turners syndrome

Path Section II exam (2 decks)

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