Allosomal Disorders

Question 1

Inherited disorders which are related to sex chromosome

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

Answer 1

Allosmal disorder

Question 2

referred to as sex chromosomes

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

Answer 2

Allosomes

Question 3

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

Answer 3

X-Linked Dominant disorder

Question 4

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

Answer 4

X-Linked Recessive disorder

Question 5

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

Answer 5

Y-Linked disorders

Question 6

Affected male inherits trait from heterozygote or homozygote mother.

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

Answer 6

X-Linked Recessive disorder

Question 7

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

Answer 7

Y-Linked disorders

Question 8

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

Answer 8

X-Linked Dominant disorder

Question 9

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

Answer 9

X-Linked Recessive disorder

Question 10

Much more severe effects in males than female heterozygotes.

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

Answer 10

X-Linked Dominant disorder

Question 11

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

Answer 11

True

Question 12

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

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

Answer 12

Incontinentia pigmenti (IP)

Question 13

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

Answer 13

Danon disease

Question 14

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

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

Answer 14

Incontinentia pigmenti (IP)

Question 15

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

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

Answer 15

Rett Syndrome

Question 16

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

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

Answer 16

Danon disease

Question 17

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

Answer 17

Incontinentia pigmenti (IP)

Question 18

Most common genetic cause of severe intellectual disability in females

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

Answer 18

Rett Syndrome

Question 19

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

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

Answer 19

Danon disease

Question 20

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

Answer 20

Rett Syndrome

Question 21

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

Answer 21

STAGE 1 – VESICULAR STAGE

Question 22

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

Answer 22

STAGE 4 –SCARRED STAGE

Question 23

marble cake-like

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

Answer 23

STAGE 3 – PIGMENTED STAGE

Question 24

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

Answer 24

STAGE 2 – VERRUCOUS STAGE

Question 25

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

Answer 25

STAGE 3 – PIGMENTED STAGE

Question 26

Skin pallor, atrophy, and scarring CHOICES: STAGE 1 – VESICULAR STAGE, STAGE 2 – VERRUCOUS STAGE, STAGE 3 – PIGMENTED STAGE, STAGE 4 –SCARRED STAGE

Answer 26

STAGE 4 –SCARRED STAGE

Question 27

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

Answer 27

Red-Green color blindness

Question 28

genes that produces the color green CHOICES: OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

Answer 28

OPN1MW and OPN1SW

Question 29

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

Answer 29

Hemophilia A

Question 30

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

Answer 30

Y-Linked deafness 1

Question 31

Treatment is by infusion of Factor VIII CHOICES: OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

Answer 31

Hemophilia A

Question 32

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

Answer 32

Red-Green color blindness

Question 33

a gene that produces red-sensitive opsin CHOICES: OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

Answer 33

OPN1LW

Question 34

Caused by a mutation in the TBL1Y gene CHOICES: OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

Answer 34

Y-Linked deafness 1

Question 35

Mutations in the OPN1LW, OPN1MW and OPN1SW genes CHOICES: OPN1MW, OPN1SW, OPN1LY, OPN1LW, Y-Linked deafness 1, Red-Green color blindness, Hemophilia A

Answer 35

Red-Green color blindness

Question 36

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

Answer 36

False - Hemophilia A

Question 37

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

Answer 37

False - Factor VIII

Question 38

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

Answer 38

X-linked recessive disorder

Question 39

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

Answer 39

X-linked dominant disorder

Question 40

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

Answer 40

X-linked recessive disorder

Question 41

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

Answer 41

X-linked dominant disorder

Question 42

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

Answer 42

X-linked dominant disorder

Question 43

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

Answer 43

False - Ear malformation, Sensorineural hearing | loss, Tinnitus

Question 44

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

Answer 44

True

Question 45

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

Answer 45

None, but his daughters will be affected.

Question 46

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

Answer 46

2:4

Question 47

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?

Answer 47

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

Question 48

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

Answer 48

None, but his daughters will become carriers.