Genetic Diseases

Question 1

Angelman Syndrome

Answer 1

Loss of gene

Question 2

Angelman Characteristics

Answer 2

Flat head, jerky movements, protruding tongues, odd bouts of laughter
Feeding trouble
Development delays
Seizures may develop
Delayed speech
Movement and balance disorders

Question 3

Cri du Chat

Answer 3

Missing part of chromosome V

Question 4

Cri du Chat Characteristics

Answer 4

Cry is high –pitched and sounds like a cat
Webbing between fingers and toes
Wide-set, downward slant to eyes
Low set ears and slow growth
Single line in the palm of the hand (simian crease)—also in Down Syndrome
Small head and small jaw

Question 5

Down Syndrome

Answer 5

Trisomy 21

Question 6

Down Syndrome Characteristics

Answer 6

Extra copy of chromosome 21
Small head
Flat face
Upward slanted eyes
Single deep crease across palm of hand
Wide space between the big toe and second toe
Low muscles tone 
Cognitive disability

Question 7

Fragile X Syndrome

Answer 7

Mutation of a gene on X-chromosome

Question 8

Fragile X Characteristics

Answer 8

Boys are affected more severely thatn girls
Prominent ears
Large head
During puberty boys usually develop large testicles and a long face
Can be aggressive
Autistic-like behaviors like hand flapping, hand biting, teeth grinding

Question 9

Neurofibromatosis

Answer 9

Autosomal dominant
Multiple large light colored birthmarks calledcafe-au-lait spots
Multiple small, rubbery lesions on the skin with purplish discoloration called neurofibromas

Question 10

Prader-Willi Syndrome

Answer 10

Low muscle tone
Extreme hunger, overeating, obsession with food after infancy
Big weight gain
Narrow face, almond shape eyes, small mouth
Mild to moderate mental retardation
Short stature

Question 11

Smith Magenis Syndrome

Answer 11

Deletion mutation on chromosome 17

Question 12

Smith Magenis Characteristics

Answer 12

Low muscle tone
Short fingers and toes
Variable levels of mental retardation

Question 13

Klinefelter’s Syndrome

Answer 13

Men who have an extra X chromosome

Question 14

Klinefelter’s Characteristics

Answer 14

Infertility
Shy/trouble fitting in
Less musculature and facial hair than other boys

Question 15

Turner Syndrome

Answer 15

Females with only one X chromosome

Question 16

Turner Syndrome Characteristics

Answer 16

Short stature
Webbed neck
Underdeveloped breast

Question 17

Triple X Syndrome

Answer 17

Extra X chromosome

Question 18

Triple X Characteristics

Answer 18

Most often no unusual features

May be taller

Question 19

Williams Syndrome

Answer 19

Deletion of part of chromosome 7

Question 20

Williams Characteristics

Answer 20

Likely to have long neck, sloping shoulders

Short nose with broad nasal tip

Question 21

CF Symptoms/Characteristics

Answer 21

Lung infections
Poor growth
Diarrhea
GI difficulties
Diagnosed with Sweat Test

Question 22

Duchenne’s Muscular Dystrophy

Answer 22

Absence of dystrophin