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Allosomal Disorders Flashcards

1
Q

Inherited disorders which are related to sex chromosome

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

Allosmal disorder

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2
Q

referred to as sex chromosomes

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

Allosomes

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3
Q

More common in females than in males, or in some cases, affect only females.

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

X-Linked Dominant disorder

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4
Q

Causes the phenotype to be always expressed in the male.

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

X-Linked Recessive disorder

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5
Q

A mutation can only be passed from father to son because only males have a Y chromosome

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

Y-Linked disorders

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6
Q

Affected male inherits trait from heterozygote or homozygote mother.

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

X-Linked Recessive disorder

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7
Q

A type of sex-connected inheritance wherein a recessive trait is genetically transposed through a sole gene on the y chromosome.

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

Y-Linked disorders

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8
Q

High rates of miscarriage due to early lethality in males.

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

X-Linked Dominant disorder

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9
Q

Females with one copy of the mutated gene are carriers

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

X-Linked Recessive disorder

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10
Q

Much more severe effects in males than female heterozygotes.

CHOICES:
X-Linked Recessive disorder, X-Linked Dominant disorder, Allosomes, Allosmal disorder, Y-Linked disorders

A

X-Linked Dominant disorder

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11
Q

X-Linked Dominant disorders are passed from male to all daughters but not to sons, hence, do not show father-to-son transmission. True or False

A

True

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12
Q

a genetic condition that affects the skin and other body systems.

CHOICES:
Incontinentia pigmenti (IP), Danon disease, Rett Syndrome
A

Incontinentia pigmenti (IP)

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13
Q

An X-linked dominant disorder characterized by intracytoplasmic vacuoles containing autophagic material and glycogen in cardiac and skeletal muscle cells in patients with cardiomyopathy and skeletal myopathy, with or without conduction defect.

CHOICES:
Incontinentia pigmenti (IP), Danon disease, Rett Syndrome
A

Danon disease

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14
Q

Rare X-linked dominant disorder that is associated with seizures and mental retardation.

CHOICES:
Incontinentia pigmenti (IP), Danon disease, Rett Syndrome
A

Incontinentia pigmenti (IP)

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15
Q

Caused by mutations in the X- linked MECP2 (Methyl CpG Binding Protein 2) gene

CHOICES:
Incontinentia pigmenti (IP), Danon disease, Rett Syndrome
A

Rett Syndrome

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16
Q

Caused by mutation in the LAMP2 (Lysosome- associated membrane protein 2) gene

CHOICES:
Incontinentia pigmenti (IP), Danon disease, Rett Syndrome
A

Danon disease

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17
Q

It is caused by mutations in the IKBKG (Inhibitor of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma) gene

CHOICES:
Incontinentia pigmenti (IP), Danon disease, Rett Syndrome
A

Incontinentia pigmenti (IP)

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18
Q

Most common genetic cause of severe intellectual disability in females

CHOICES:
Incontinentia pigmenti (IP), Danon disease, Rett Syndrome
A

Rett Syndrome

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19
Q

Wolf-Parkinson-White (WPW) syndrome, visual acuity abnormalities due to choriocapillaris ocular atrophy, or mental retardation

CHOICES:
Incontinentia pigmenti (IP), Danon disease, Rett Syndrome
A

Danon disease

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20
Q

a reversible condition and that MeCP2-related disorders can be treated even at late stages of disease progression

CHOICES:
Incontinentia pigmenti (IP), Danon disease, Rett Syndrome
A

Rett Syndrome

21
Q

Lines of blisters are present on the trunk and extremities of the newborn that disappear in weeks or months.

CHOICES:
STAGE 1 – VESICULAR STAGE,
STAGE 2 – VERRUCOUS STAGE, STAGE 3 – PIGMENTED STAGE, STAGE 4 –SCARRED STAGE

A

STAGE 1 – VESICULAR STAGE

22
Q

Reduction of hair in the involved scarred areas, both on the limbs and scalp

CHOICES:
STAGE 1 – VESICULAR STAGE,
STAGE 2 – VERRUCOUS STAGE, STAGE 3 – PIGMENTED STAGE, STAGE 4 –SCARRED STAGE

A

STAGE 4 –SCARRED STAGE

23
Q

marble cake-like

CHOICES:
STAGE 1 – VESICULAR STAGE,
STAGE 2 – VERRUCOUS STAGE, STAGE 3 – PIGMENTED STAGE, STAGE 4 –SCARRED STAGE

A

STAGE 3 – PIGMENTED STAGE

24
Q

Lesions develop in the patient at about 3 to 7 months of age that are brown and hyperkeratotic, resembling warts; these disappear over 1 to 2 years

CHOICES:
STAGE 1 – VESICULAR STAGE,
STAGE 2 – VERRUCOUS STAGE, STAGE 3 – PIGMENTED STAGE, STAGE 4 –SCARRED STAGE

A

STAGE 2 – VERRUCOUS STAGE

25
Q

These may fade over time, leaving only remnant hypopigmentation in late adolescence or adulthood

CHOICES:
STAGE 1 – VESICULAR STAGE,
STAGE 2 – VERRUCOUS STAGE, STAGE 3 – PIGMENTED STAGE, STAGE 4 –SCARRED STAGE

A

STAGE 3 – PIGMENTED STAGE

26
Q

Skin pallor, atrophy, and scarring

CHOICES:
STAGE 1 – VESICULAR STAGE,
STAGE 2 – VERRUCOUS STAGE, STAGE 3 – PIGMENTED STAGE, STAGE 4 –SCARRED STAGE

A

STAGE 4 –SCARRED STAGE

27
Q

Also known as Daltonism

CHOICES:
OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

A

Red-Green color blindness

28
Q

genes that produces the color green

CHOICES:
OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

A

OPN1MW and OPN1SW

29
Q

A disorder where the blood cannot clot properly due to deficiency of a clotting factor called Factor VIII

CHOICES:
OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

A

Hemophilia A

30
Q

Characterized by male-limited post lingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life

CHOICES:
OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

A

Y-Linked deafness 1

31
Q

Treatment is by infusion of Factor VIII

CHOICES:
OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

A

Hemophilia A

32
Q

a person cannot distinguish shades of red and green (usually blue-green)

CHOICES:
OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

A

Red-Green color blindness

33
Q

a gene that produces red-sensitive opsin

CHOICES:
OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

34
Q

Caused by a mutation in the TBL1Y gene

CHOICES:
OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

A

Y-Linked deafness 1

35
Q

Mutations in the OPN1LW, OPN1MW and OPN1SW genes

CHOICES:
OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

A

Red-Green color blindness

36
Q

People with Hemophilia B bruise easily and can have internal bleeding into their joints and muscles. True or False

A

False - Hemophilia A

37
Q

Female carriers of Hemophilia A may show some mild signs of Factor VII deficiency, such as bruising easily or taking longer than usual to stop bleeding when cut. True or False

A

False - Factor VIII

38
Q

Classic Hemophilia

CHOICES:
X-linked dominant disorder, X-linked recessive disorder

A

X-linked recessive disorder

39
Q

Rett Syndrome

CHOICES:
X-linked dominant disorder, X-linked recessive disorder

A

X-linked dominant disorder

40
Q

Daltonism

CHOICES:
X-linked dominant disorder, X-linked recessive disorder

A

X-linked recessive disorder

41
Q

Incontinentia pigmenti

CHOICES:
X-linked dominant disorder, X-linked recessive disorder

A

X-linked dominant disorder

42
Q

Danon disease

CHOICES:
X-linked dominant disorder, X-linked recessive disorder

A

X-linked dominant disorder

43
Q

Clinical manifestation of DFNY1 is internal bleeding, hematoma, and prolonged bleeding time. True or False

A

False - Ear malformation, Sensorineural hearing

loss, Tinnitus

44
Q

Y-Linked disorders are much difficult to detect. True or False

45
Q

In an X-linked dominant disorder, when the father is affected, what is the probability or ratio of having a son that is affected?

A

None, but his daughters will be affected.

46
Q

In an X-linked dominant disorder, when the mother is affected, what is the probability or ratio of having an offspring that is affected?

47
Q

In an X-linked recessive disorder, when the mother is a carrier, what is the probability or ratio of having an offspring that is affected?

A

A son will be affected and her daughter will also become a carrier like her.

48
Q

In an X-linked recessive disorder, when the father is affected, what is the probability or ratio of having an offspring that is affected?

A

None, but his daughters will become carriers.

Cytogenetics (12 decks)

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