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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
When is the earliest amniocentesis can be performed?
15 weeks
26
Which test can be performed at 10 weeks?
Chorionic villi sample
27
any exact multiple of the haploid number
Euploid
28
multiples of the haploid number beyond 2n, such as 3n, 4n, 5n, etc.
Polyploid
29
a. any number of chromosomes that is not an exact multiple of n Examples – (n + 1), (n - 1), (2n + 1), (2n - 1)
Aneuploidy
30
defined as two or more karyotypic populations of cells in the same individual. Occurs more commonly involving the sex chromosomes.
Mosaicism
31
What are the 2 types of translocations?
1. Balanced reciprocal translocation | 2. Robertsonian translocation or centric fusion
32
1) fragments are exchanged between two chromosomes and no genetic material is lost.
Balanced reciprocal translocation
33
reciprocal translocation that always occurs between two acrocentric chromosomes
Robertsonian translocation or centric fusion
34
in which translocation do we ALWAYS get loss of genetic material?
Robertsonian translocation (centric fusion)
35
a. Centromere divides transversely so that the two short arms are paired and the two long arms are paired.
Isochromosomes
36
Loss of a portion of a chromosome
deletion
37
What is worse having extra chromosomes or missing chromosomes?
missing
38
1) One chromosome breaks, then the broken segment makes a complete turnaround and reattaches to the original chromosome.
inversions
39
what are the 2 patterns of inversion?
Paracentric and pericentric
40
have both breaks on the same side
paracentric
41
have breaks on either side of the centromere
pericentric
42
which chromosome aberrations have structural abnormalities?
``` Translocations isochromosomes deletions inversions ring chromosomes ```
43
which chromosome aberrations have numerical abnormalities?
Polyploid aneuploidy mosaicism
44
2 or more distinct karyotypic cell populations in the same individual
Mosaicism
45
mosaicism is an abnormality that occurs due to what?
Nondisjunction
46
deletion that occurs at both ends of a single chromosome, then damaged ends fuse
Ring chromosome
47
what are abnormalities that create re-arranged material?
Translocations and inversions
48
Abnormalities involving ____are generally more severe than defects involving _____________
Autosomes | sex chromosomes
49
a missing ______ is not compatible with life
autosome
50
how do most cytogenic disorders arise?
arise De Novo in the gametes
51
disorder is neither in the parental line nor is it familial
cytogenic disorder
52
chromosomal abnormality arises during gametogenesis
cytogenic disorders
53
What are the cytogenic disorders involving autosomes?
Trisomy 21- Down syndrome Trisomy 18- Edwards syndrome Trisomy 13- Patau syndrome
54
incidence 1: 1700 live births
Down syndrome
55
47XX +21 or 47XY+21
down syndrome
56
% of down syndrome caused by translocation?
4%
57
% of down syndrome mosaics
1%
58
46XX/47 XX +21
down syndrome mosaics
59
what tests do you use to diagnose Down syndrome?
First trimester screening test and Karyotyping
60
identifies polymorphicgenetic markers of fetal free DNA in maternal blood
First trimester screening test
61
when is the first trimester screening test done?
11-13 weeks gestation
62
which disorder has horizontal palmar crease/ simian crease?
down syndrome
63
which disorder has hypotonia?
down syndrome
64
which disorder has congenital heart defects? | e.g.atrial septal defect
down syndrome
65
which disorder has high risk for developing Alzheimer's?
Down syndrome
66
which disorder has late face and epicentral folds?
down syndrome
67
what are the most common causes of death for down syndrome?
- heart defects - infections - leukemia
68
what is the median life expectancy for DS?
60 years old
69
which disorder has predisposition for autoimmune thyroid disease-> hypothyroidism?
down syndrome
70
incidence 1:8,000 live births
edwards syndrome
71
47,XY,+18 or 47,XX,+18
edwards syndrome
72
which disorder displays prominent occiput?
Edwards syndrome
73
which disorder displays micrognathia?
Edwards syndrome
74
which disorder displays hypertonicity?
Edwards syndrome
75
which disorder displays horse shoe kidney?
Edwards syndrome
76
which disorder displays crossed fingers
Edwards syndrome
77
which natural position in edwards syndrome persists in death?
crossed fingers
78
which disorders display rocker bottom feet?
edwards and patau
79
Incidence 1:15,000live births
Patau syndrome
80
47,XX,+13 or 47,XY,+13
Patau syndrome
81
which disorder displays microcephaly?
Patau syndrome
82
which disorder displays micropthalmia?
Patau syndrome
83
which disorder presents with cleft lip and cleft palate?
Patau syndrome
84
which disorder presents with polydactyly
Patau syndrome
85
what are the cytogenic disorders involving sex chromosomes?
Klinefelter syndrome | Turners syndrome
86
incidence 1:1,000 to 1: 1500 live male births
Kleinfelter syndrome
87
up to 15% mosaics
Kleinfelter syndrome
88
which syndromes have hypogonadism?
Kleinfelter syndrome and turners syndrome
89
Small testes low testosterone elevated urine are clinical features of what disorder?
Kleinfelter syndrome
90
breast development in men
gynecomastia inKleinfelter syndrome
91
Elongated body appearance -long legs particularly in femur
Kleinfelter syndrome
92
mild decreased intelligence relative to other family members
Kleinfelter syndrome
93
increased risk for breast cancer, extragonadal germ cell tumors and autoimmune disease
Kleinfelter syndrome
94
incidence 1: 2,500-1:2,000 live female births
Turners syndrome
95
Monosomy-only one sex chromosome
Turners syndrome
96
45X
Turners syndrome
97
% mosaics in turners syndrome?
43%
98
possible problems with cystic hydromas?
Turners syndrome
99
which syndrome manifest short stature?
Turners syndrome
100
Webbed neck and low posterior hair line
Turners syndrome
101
broad (shield) chest
Turners syndrome
102
coartaction of aorta
Turners syndrome

Path Section II exam (2 decks)

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