Genetic Disorders

chromosome 12, autosomal recessive

PKU

Can not break down phenylalanine (an amino acid)

PKU

1 in 25,000 newborns

PKU

Symptoms - musty odor in breath, sweat, and urine

PKU

The first genetic test was done on an infant

PKU

On a strict, low-to-no protein diet

PKU

Nerve cells decay in the brain

Huntingtons

Chromosome 4, HTT gene, autosomal dominant

Huntingtons

Dysphagia - can’t control muscle movement

Huntingtons

Dysarthria - slurred speech (tongue)

Huntingtons

Lots of jerky movements

Huntingtons

children have 50% chance of inheriting

Huntingtons

Diagnosed 30s-50s

Huntingtons

Repeat of CAG in DNA

Huntingtons

Only in males

Klinefelter’s

occurs due to nondisjunction

Klinefelter’s

XXY

Klinefelter’s

Extra x chromosome on 23; 47 chromosomes

Klinefelter’s

1 in 600 people

Klinefelter’s

Gynochamastia - larger breast tissue

Klinefelter’s

Late puberty onset

Klinefelter’s

Less hair

Klinefelter’s

Azoospermia - less viable sperm and a greater risk for breast cancer

Klinefelter’s

chromosome 11, autosomal recessive

Sickle Cell Anemia

Glutamic acid to Valine; bends the RBC and causes them to be sticky; can cause blood clots

Sickle Cell Anemia

Chronic pain, stiff joints

Sickle Cell Anemia

Male death increases due to a lack of estrogen

Sickle Cell Anemia

Lifspan: 50-55

Sickle Cell Anemia

Trisomy 18

Edwards syndrome

1 in 6000 births

Edwards syndrome

Increased chance with the mother of older age

Edwards syndrome

95% die before they are born (in utero) and 90% die within the first year

Edwards syndrome

Symptoms - low set years, clenched fists with overlapping fingers, micrognathia (small jaw), rocker bottom feet (soles are convex), microcephaly (small head), horseshoe kidneys

Edwards syndrome

More common in female births

Edwards syndrome

Chromosome 1, LMNA gene, nuclear membrane dissolves

Progeria

premature aging

Progeria

Hutchinson gilford disease

Progeria

Symptoms - little hair and thin skin, one prominent vein in their forehead, dental crowding, high-pitched voice, inability to close eyes when they sleep

Progeria

average lifespan - 14 years

Progeria

Typically die from a stroke or a heart attack

Progeria

Causes muscle atrophy; sex linked

DMD

prevents people from making distrophin

DMD

Gower’s manuever

DMD

lifespan - 31 years

DMD

Delay in milestones dealing with muscle activity

DMD

Diaphragm - last muscle to go

DMD

Affects photoreceptors in the eyes; mostly affects 2 colors; sex linked

Colorblindness

John Dalton

Colorblindness

Ischiria test

Colorblindness

Monochromacy and dueteronopia

Colorblindness

Sex-linked; FMR1 gene

Fragile X

Martin Bell

Fragile X

CGG repeat

Fragile X

Mental retardation, learning difficulty, speech delays, sensory sensitivity

Fragile X

Chromosome 13; ATP7G gene; autosomal recessive

Wilsons

Copper buildup

Wilsons

Kayser-Fleischer rings - a brown ring around the iris of the eye due to copper buildup

Wilsons

Associated with the liver - cirrhosis

Wilsons

Insomnia and fatigue

Wilsons

Avoid foods like beef liver and shellfish

Wilsons

Chromosome 7; CFTR gene; autosomal recessive

Cystic fibrosis

Hardened white pancreas

Cystic fibrosis

1 in 2,500 people

Cystic fibrosis

Symptoms - salty skin, thick mucus, persistent cough

Cystic fibrosis

High-calorie diet

Cystic fibrosis

Girls have a shorter lifespan (estrogen)

Cystic fibrosis

Happy puppet syndrome; puppet-like gait and functions

Angelman Syndrome

Extreme happiness, excessive hand flapping, and poor sleep cycle

Angelman Syndrome

Chromosome 15; UBE3A gene

Angelman Syndrome

Albus - white

Albinism

Found on many different chromosomes

Albinism

Lack of melanin or pigmentation in the skin, hair, and eyes

Albinism

2 main types - OCA and OA

Albinism

Cause vision issues

Albinism

Sensitive to light and milky white skin

Albinism

Chromosome 15; FBN1 gene; fibrilin 1

Marfans Syndrome

Connective tissue disorder

Marfans Syndrome

Unusually long arms and legs

Marfans Syndrome

Arachnodactyly - abnormally long fingers and toes, pectus exavatum or pectus carinatum - chest in or out, and crowded teeth

Marfans Syndrome

Abe Lincoln

Marfans Syndrome

Chromosome 4; FGFR3 gene; slows bone growth; autosomal dominant

Achondroplasia

Homozygous form causes death

Achondroplasia

Symptoms - Genu varum (bowed leg), Kyphosis (curved spine), walk with a wider stance, otitis media (ear infections), lower muscle tone, and loose joints

Achondroplasia

Chromosome 15; lack of the hexa gene; autosomal recessive

Tay-Sachs Disease

Buildup of fatty substances in the brain

Tay-Sachs Disease

Diagnosed with a red spot in the eye; typically noticed at 6 months of age because they don’t reach milestones

Tay-Sachs Disease

Eventually, can not use muscles, can’t swallow or speak

Tay-Sachs Disease

Non disjunction; 45X

Turner Syndrome

Symptoms - webbed neck, short, only in females, sterile, drop all eggs before puberty, cubitus valgus (forearm is extremely angled)

Turner Syndrome

Sex linked; mainly in males

Hemophilia

Proteins to clot blood are absent (Factor VIII)

Hemophilia

Bleeders disease

Hemophilia

aPTTT is a test that measures blood clotting

Hemophilia

Average lifespan - 73

Hemophilia

Excessive body hair

Hypertichosis

Werewolf syndrome

Hypertichosis

5 types; Hirsutism

Hypertichosis

Lanugo never goes away and keeps on growing

Hypertichosis

Form of nondisjunction; trisomy 13

Patau Syndrome

Microcephaly (small head), polydactyly (extra finger or toe), microphthalmia, cleft palate

Patau Syndrome