2 - 18 - GENETICS IN RELATION TO THE SKIN Flashcards

1
Q
  • one parent is affected unless there has been a de novo mutation in a parental gamete
  • Males and females are affected in approximately equal numbers
  • disorder can be transmitted from generation to generation;
  • on average, half the offspring will have the condition
A

Autosomal dominant

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2
Q

when the phenotype in heterozygous individuals is less than that observed for homozygous subjects

A

semidominant

For example, ichthyosis vulgaris is a semidominant disorder in which the presence of one or two mutant profilaggrin gene (FLG) alleles can strongly influence the clinical severity of the ichthyosis.

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3
Q

this is the best hallmark of autosomal dominant inheritance which distinguish it from X-linked dominant

A

male-to-male transmission

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4
Q

both parents are carriers of one normal and one mutated allele for the same gene, and, typically, they are phenotypically unaffected

A

autosomal recessive

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5
Q

If both of the mutated alleles are transmitted to the offspring, this will give rise to a disorder acquired in which pattern of inheritance?

the risk of which is 25%

A

Autosomal recessive

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6
Q

If the mutations from both parents are the same, the individual is referred to as a?

A

homozygote

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7
Q

if different parental mutations within a gene have been inherited, the individual is termed what?

A

compound heterozygote

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8
Q

if the partner of an individual with an autosomal recessive disorder is also a carrier of the same mutation, albeit clinically unaffected, then there is a 50% chance of the offspring inheriting two mutant alleles and therefore also inheriting the same autosomal recessive disorder. This pattern of inheritance is referred to as?

A

pseudodominant

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9
Q

difference of XLD to AD

A

no male-to-male transmission

An affected male transmits the disorder to all his daughters and to none of his sons

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10
Q

both males and females are affected, and the pedigree pattern may resemble that of autosomal dominant inheritance

A

X-linked dominant

An affected male transmits the disorder to all his daughters and to none of his sons

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11
Q

occur almost exclusively in males, but the gene is transmitted by carrier females, who have the mutated gene only on one X chromosome (heterozygous state).

A

X-linked recessive conditions

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12
Q

The sons of an affected male will all be normal (because their single X chromosome comes from their clinically unaffected mother)

A

X-linked recessive conditions

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13
Q

the daughters of an affected male will all be carriers (because all had to have received the single X chromosome from their father that carries the mutant copy of the gene)

A

X-linked recessive conditions

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14
Q

The number and arrangement of the chromosomes is referred to as?

A

karyotype

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15
Q

most common numerical abnormality of chromosomes

A

trisomy

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16
Q

If two chromosomes break, the detached fragments may be exchanged, known as?

If this process involves no loss of DNA, it is referred to as?

A

reciprocal translocation

balanced translocation

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17
Q

The phenomenon of having mixed mitochondrial DNA species within a cell is known as

A

heteroplasmy

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18
Q

The presence of a mixed population of cells bearing different genetic or chromosomal characteristics leading to phenotypic diversity is referred to as

A

mosaicism

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19
Q

Mosaicism for a single gene

A

somatic mosaicism

indicates a mutational event occurring after fertilization

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20
Q

define the lines of Blaschko

A

the pattern is attributed to the lines of migration and proliferation of epidermal cells during embryogenesis (ie, the bands of abnormal skin represent clones of cells carrying a mutation in a gene expressed in the skin)

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21
Q

The HLA region is located on the short arm of chromosome 6, at 6p21, referred to as the _____

A

MHC

Human leukocyte antigen (HLA) molecules are glycoproteins that are expressed on almost all nucleated cells.

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22
Q

Fetal skin biopsies are taken during what trimester?

A

midtrimester

For disorders such as EB, testing at 16 weeks’ gestation is appropriate. However, for some forms of ichthyosis, the disease-defining structural pathology may not be evident at this time, and fetal skin sampling may need to be deferred until 20 to 22 weeks of development.

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23
Q

Identify the pattern of inheritance

Ichthyosis vulgaris

A

Autosomal semidominant

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24
Q

Identify the pattern of inheritance

Neurofibromatosis

A

AD

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25
Identify the pattern of inheritance Tuberous sclerosis
AD
26
Identify the pattern of inheritance Darier disease
AD
27
Identify the pattern of inheritance Hailey-Hailey disease
AD
28
Identify the pattern of inheritance Lamellar ichthyosis
AR
29
Identify the pattern of inheritance Xeroderma pigmentosum
AR
30
Identify the pattern of inheritance Junctional epidermolysis bullosa
AR
31
Identify the pattern of inheritance Kindler syndrome
AR
32
Identify the pattern of inheritance Conradi-Hunermann-Happle syndrome
XLD
33
Identify the pattern of inheritance Incontinentia pigmenti
XLD
34
Identify the pattern of inheritance Focal dermal hypoplasia
XLD
35
Identify the pattern of inheritance X-linked dominant protoporphyria
XLD
36
Identify the pattern of inheritance Hypohidrotic ectodermal dysplasia
XLR
37
Identify the pattern of inheritance X-linked ichthyosis
XLR
38
Identify the pattern of inheritance Wiskott-Aldrich syndrome
XLR
39
Identify the pattern of inheritance Fabry disease
XLR
40
# Identify the pattern of inheritance Menkes syndrome
XLR
41
# Identify the affected gene Ichthyosis vulgaris
FLG
42
# Identify the affected gene Neurofibromatosis
NF1
43
# Identify the affected gene Tuberous sclerosis
TSC1 or TSC2
44
# Identify the affected gene Darier disease
ATP2A2
45
# Identify the affected gene Hailey-Hailey disease
ATP2C1
46
# Identify the affected gene Lamellar ichthyosis
TGM1
47
# Identify the affected gene Xeroderma pigmentosum
XP-A to XP-G
48
# Identify the affected gene Junctional epidermolysis bullosa
LAMA3, LAMB3, LAMC2
49
# Identify the affected gene Kindler syndrome
FERMT1
50
# Identify the affected gene Conradi-Hunermann-Happle syndrome
EBP
51
# Identify the affected gene Incontinentia pigmenti
NEMO
52
# Identify the affected gene Focal dermal hypoplasia
PORCN
53
# Identify the affected gene X-linked dominant protoporphyria
ALAS2
54
# Identify the affected gene Hypohidrotic ectodermal dysplasia
EDA, EDA1, HED
55
# Identify the affected gene X-linked ichthyosis
STS
56
# Identify the affected gene Wiskott-Aldrich syndrome
WAS
57
# Identify the affected gene Fabry disease
GLA
58
# Identify the affected gene Menkes syndrome
MNK
59
Down syndrome/ Trisomy 21
60
Edwards Syndrome / Trisomy 18
61
Patau syndrome / Trisomy 13
62
Chromosome 4, short arm deletion
63
Chromosome 5, short arm deletion
64
Chromosome 18, long arm deletion
65
Turner syndrome/ 45 XO
66
Klinefelter syndrome/ 47 XXY
67
48 XXYY
68
47 XYY
69
49 XXXXY
70
Fragile X syndrome