Genetic Diseases
Genetic Diseases
Terms to Know
Terms 2
Terms 3
100

Affects structure and function of the heart. May cause blue-tinted lips or nails and fatigue.

Congenital heart defect

100

Muscle disease with weakness and loss. Presents at different times in the life cycle. Loss of ability to walk. 

Muscular Dystrophy

100

Test on pregnant woman w/needle in abdomen to extract cells shed by fetus in amniotic fluid

Amniocentesis

100

Fertilized egg; contains the genetic information from both parents

Zygote

100

Time when *contractions* occur resulting in the movement of the fetus from the uterus 

Labor

200

Flattened face, bridge of nose. Short neck, small ears. Almond-shaped eyes slanting up. Poor muscle tone, loose joints. 

Downs Syndrome

200

Progressive brain disorder. Uncontrolled movement, poor coordination, irritability, depression, and seizures.

Huntington's Disease

200

After conception, formed after multiple cell divisions

Blastocyst

200

Organ produced by the body during pregnancy which nourishes and protects developing life

Placenta

200

Developing human from 10 weeks prenatally until birth

Fetus

300

Rare bleeding disorder. Blood does not clot properly. Spontaneous internal bleeding. 

Hemophilia

300

Hemoglobin forms into stiff rods within red blood cells. Cells often burst. Anemia, eventual heart failure. Common among certain populations.

Sickle-cell anemia

300

contain genetic information needed for human growth and development

Chromosomes
300

Period of development from conception to birth

Prenatal Development

300

Location in which ovum and sperm meet and where initial cell division takes place

Fallopian Tube

400

Disease with thick, sticky mucus that can damage the respiratory system. Also may cause digestive problems.

Cystic Fibrosis

400

Begins at 3-6 mos, causes loss of prior development. Muscles weaken, twitch. Seizures, difficulty swallowing, hearing loss, red spot in eye.

Tay-Sachs Disease

400

When a sperm penetrates an ovum, also referred to as fertilization

Conception

400

Creamy white substance which protects the skin from surrounding water of amniotic fluid

Vernix Caseosa or "vernix"

400

Point in which the egg attaches to the uterus

Implantation

500

Birth defects of brain, spinal cord. Neural tube does not close. May present as anencephaly or spina bifida.

Neural tube defects

500

Another name for Down's Syndrome that refers to the chromosomal defect

Trisomy 21

500

term for a prenatal, developing human from 5-10 weeks

Embryo

500

Ejection of the mature egg from the ovary into the fallopian tube

Ovulation

500

Mature egg

Ovum