Genetic Diseases Flashcards Preview

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Flashcards in Genetic Diseases Deck (33)
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1
Q

Angelman syndrome

A

Affects the nervous system. Comes with frequent seizures, a smaller head size, hard time with speech, and they usually flap their arms around

2
Q

Moebius syndrome

A

Cranial nerves effected. Hard time smiling because facial muscles are effected. Inability to move eyes

3
Q

Ehlers danlos syndrome (EDS)

A

Loose stretchy skin

4
Q

Thalassemia

A

Blood disorder where it makes an abnormal form of hemoglobin. Results in large number of destroyed red blood cells

5
Q

Congenital heart defects

A

Heart abnormalities present when the child is born. Excess amount of blood in lungs, not enough blood in lungs, or not enough blood flows through the body

6
Q

Fragile X syndrome

A

X linked disorder on the FMR1 gene. Affects boys more than girls

7
Q

Neurofibromatosis

A

Body begins to grow tumors that are both inside and outside the body

8
Q

Marfan syndrome

A

Effects connective tissue. Tall and thin

9
Q

Klinefelter syndrome

A

Male gets one or more additional X chromosome making them more feminine with enlarged breast tissue low muscle mass and infertility

10
Q

Prader- willi syndrome

A

Excessive hunger causing obesity

11
Q

Cornelia de Lange

A

-

12
Q

Ichthyosis

A

Tough scaly skin

13
Q

Wilsons disease

A

A build up of copper in the organs which can cause eye discoloration

14
Q

Xeroderma pigmentosum

A

Causes dry skin, blistering, sunburn, and hard to go in sunlight

15
Q

Muscular dystrophy

A

-interfere with the production of proteins causing loss of muscle mass

16
Q

Waardenburg syndrome

A

Changing of hair skin and eye color

17
Q

Polycystic kidney disease

A

High blood pressure, urine tract infection, kidney stones, bloody urine, cysts on kidney

18
Q

Velocardiofacial syndrome

A

Chromosome 22 cleft palet

19
Q

Hartnup’s disease

A

-

20
Q

Spina bifida

A

-neural tube is affected. Sac appears on back.

21
Q

Hunters syndrome

A

Sugar

22
Q

Tay-sachs

A

-

23
Q

Cystic fibrosis

A

Salty skin lung problem

24
Q

Ataxia telangiectasia (AT)

A

-causes immobility, dilated blood veins, weak immune system, and speech problems

25
Q

Achondroplasia

A

Form of short limbed dwarfism

26
Q

Cri-du-chat

A

High pitched cry like a cat

27
Q

Hemophilia

A

Blood doesn’t clot normally

28
Q

Huntington

A

Brain disorder causing uncontrolled movements, emotional problems, and loss of thinking ability

29
Q

Patau syndrome

A

A person has an extra chromosome 13

30
Q

PKU

A

Causes an amino acid, phenylalanine, to build up in the body

31
Q

Polydactyly

A

More fingers or toes

32
Q

Sickle cell anemia

A

Red blood cells become misshapen and break down

33
Q

Turners syndrome

A

A female born with only one X chromosome