Genetic Disorder (Alosommal)

Question 1

Disorders that are seen more commonly in FEMALES than males, or in the case of some disease, affect ONLY FEMALES.

Answer 1

X-linked Dominant Disorders

Question 2

What are some examples of X-linked Dominant Disorders?

Answer 2

• Rett Syndrome
• Lissencephaly
• Double-cortex syndrome
• Incontinentia pigmenti type 1

Question 3

Disorder characterized by intracytoplasmic vacuoles containing autophagic material and glycogen in cardiac and skeletal muscle cells with CARDIOMYOPATHY and SKELETAL MYOPATHY, with or without conduction defect.

Answer 3

Danon Disease

Question 4

X-LINKED DOMINANT DISORDER that are associated with seizures and mental retardation. The condition is presumed to be lethal to boys in utero because nearly 100% of cases are female.

Answer 4

Incontinentia Pigmenti

Question 5

What is the gene defect of Incontinentia Pigmenti (X-linked Dominant Disorders) ?

Answer 5

IKBKG gene

Question 6

Stage of Incontentia Pigmenti wherein the lines of BLISTERS are present on the trunk and extremities of the newborn that disappear in weeks or months.

Answer 6

Stage 1 - Vesicular Stage

Question 7

The stage of Incontinentia Pigmenti wherein lesions develop in the patient at about 3-7 months of age that are brown and hyperkeratotic, resembling WARTS; these disappear over 1-2 years.

Answer 7

Stage 2 - Verrucous Stage

Question 8

The stage of Incontinentia Pigmenti wherein whorled, swirling (MARBLE CAKE-LIKE) macular, hyperpigmented lines develop. These may fade over time, leaving only remnant hypo pigmentation in late adolescence or adulthood.

Answer 8

Stage 3 - Pigmented Stage

Question 9

The stage of Incontinentia Pigmenti wherein had skin pallor, atrophy, and scarring. It also causes reduction of hair in the involved SCARRED AREAS, both on the limbs and scalp. Most evident on lower legs.

Answer 9

Stage 4 - Atrophic (Scarred) Stage

Question 10

Disorders that common genetic cause of severe INTELLECTUAL DISABILITY IN FEMALES.

Answer 10

Rett Syndrome

Question 11

What is the gene defect of Rett Syndrome (X-linked Dominant Disorders) ?

Answer 11

MECP2 gene

Question 12

It is inherited through a genetic defect on an X chromosome. It causes the phenotype to be always expressed in males. But females with ONE COPY OF MUTATED GENE CARRIERS.

Answer 12

X-linked Recessive Disorder

Question 13

A visuality of a person that affects visuality in terms of color red and green. It affects males more often than females.

Answer 13

Red-Green Color Blindness

Question 14

What is the gene defect of Red-Green Color Blindness (X-linked Recessive) ?

Answer 14

OPN1LW, OPN1MW, and OPN1SW genes

Question 15

Red-Green Color Blindness also known as?

Answer 15

Daltonism

Question 16

A disorder where the BLOOD CANNOT CLOT PROPERLY due to a deficiency of a clotting factor.

Answer 16

Hemophilia A

Question 17

Clotting Factor also called as?

Answer 17

Factor VIII

Question 18

What is the gene defect of Hemophilia A (X-linked Recessive) ?

Answer 18

Factor VIII (F8)

Question 19

The mutated gene that causes the disorder is located on the Y chromosome. MUTATION THAT CAN ONLY BE PASSED FROM FATHER TO SON but difficult to detect.

Answer 19

Y-linked

Question 20

Example of Y-linked disorder also known as HEARING IMPAIRMENT?

Answer 20

Deafness, Y-linked 1 (DFNY1)

Question 21

It is an extra electrical pathway in the heart that leads to periods of rapid heart rate (tachycardia).

Answer 21

Wolff-Parkinson-White Syndrome (WPW)

Question 22

What is the genetic trait of Red-Green Color Blindness?

Answer 22

X-linked Recessive

Question 23

What genetic trait is Hemophilia?

Answer 23

X-linked recessive

Question 24

What are some examples of X-linked recessive disorder?

Answer 24

• Red-Green Color Blindness
• Hemophilia A

Question 25

what type of defect is Blue-Yellow Color Vision Defects?

Answer 25

Tritan defect

Question 26

What is the gene defect of Wolff-Parkinson White Syndrome?

Answer 26

Lysosome-Associated Membrane Procedure 2 (LAMP2)