Mendelian Principles in Human Genetics

achondroplasia

It is a disorder of the bone growth that causes the most common type of dwarfism.

brachydactyly

A condition characterized by shortening of the fingers and toes due to unusually short bones

congenital stationary night blindness

• Disorder of the retina of the eye

• People with this condition typically have difficulty seeing and distinguishing objects in low light. (NIGHTBLINDNESS)

ehler-danlos syndrome

• A disorder that affects the connective tissue supporting skin, bones, blood vessels and many other organs and tissues

Huntington's disease

• Condition that causes progressive degeneration of the cells of the brain.

• In include uncontrolled movement, loss of intellectual abilities, various emotional and psychiatric problems

35-44

(Huntington's disease) Signs and symptoms usually develop between ___ years old

marfan syndrome

• Connective tissue disorder associated with abnormal enlargement of the aortic root of the heart, tall and lanky body with increased joint mobility, scoliosis, long flat feet and long fingers

neurofibrosis

• Disorder having an increased risk of developing many different types of tumors both benign (noncancerous) and malignant(cancerous

phenylthiocarbamide, phenylthiourea

• Also called as ___ that has the unusual property that it either taste very bitter or it is virtually tasteless, depending on the genetic make up of the taster

widow's peak

• Characterized with a V-shape hairline

wolly hair

• Disorder having inconstant degree of tight curling present throughout the scalp

albinism

(recessive traits inherited conditions in humans) Typically referred to oculocutaneous, a group of inherited disorder where there is little or no production of the pigment melanin

Alkaptonuria

(recessive traits inherited conditions in humans) Rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body

ataxia telangiectasia

(recessive traits inherited conditions in humans) Rare childhood disease which affects the brain and other parts of the body

ataxia telangiectasia

(recessive traits inherited conditions in humans) Characterized with uncoordinated movement, such as walking, enlarged blood vessels, just below the surface of the skin which appears as tiny, red, spider-like veins

cystic fibrosis

(recessive traits inherited conditions in humans) Disorder characterized by the build up of thick, sicky mucus that can damage many of the body's organs.

duchenne muscular dystrophy

(recessive traits inherited conditions in humans) Condition characterized by progressive muscle weakness and wasting primarily affects muscle of the bones, which are used for movement and heart muscle

galactosemia

(recessive traits inherited conditions in humans) • Disorder that affects how the body processes a simple sugar called galactose

galactosemia

(recessive traits inherited conditions in humans) • The signs and symptoms of ___ is the inability to use galactose to produce energy

glycogen storage disease

(recessive traits inherited conditions in humans) • Disorder caused by the build up of a complex sugar called glycogen. • The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, amall intestine

phenylketonuria

(recessive traits inherited conditions in humans) • Disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.

phenylalanine

(recessive traits inherited conditions in humans) • Without dietary treatment, ___ can build up to harmful levels in the body, causing mental retardation, and other problems

sickle-cell disease

• Diseases that affects hemoglobin, the molecule in the red blood cells that delivers oxygen to the cell throughout the body

tay-sachs disease

• Disorder caused by the sickling of red blood cells

anemia

When red blood cells sickle, they breakdown prematurely, which can lead to __.

Anemia

__ can cause shortness of breath, fatigue and delayed growth and development to childre

Genetic counselors

can provide information to prospective parents concerned about a family history for a specific disease

family histories

Using ____, genetic counselors helps couple determine the odds that their children will have genetic disorders

Amniocentesis

A prenatal test in which a small amount of amniotic fluid is removed from the sac surrounding the fetus for testing

Chorionic Villus Sampling (CVS)

A prenatal test that diagnoses chromosomal abnormalities such as Down Syndrome

chorionic villi

Chorionic Villus Sampling (CVS) - The doctor takes cell from tiny fingerlike projections on your placenta called _____ and sends it to laboratories for analysis

Ultrasound

A scan that uses high frequency sound waves to study internal body structures.

Fetoscopy

A technique that utilizes small camera or scope to examine and perform procedures on the fetus during pregnancy

New born screening

• The practice of testing new born for harmful or potentially fatal disorder that is not otherwise apparent at birth.