Human Genetic Disorders

• The following is a presentation of several human

genetic disorders. Some of the pictures may be
disturbing. Please keep in mind that these
photographs are taken to assist the medical field in
correctly diagnosing genetic disorders.
• Photos are from Smith’s Recognizable Patterns of Human
Malformation, Chromosome Abnormalities, and Genetic
Counseling, Genetics In Medicine.
 Human Genetic Disorders

• Many of the disorders that will be discussed

during this presentation are in extremely
low frequency in the population. This
means that very few individuals in the
world suffer from these disorders.
• Heredity
Human Genetics
• The passing-down of traits from parent to child
through genes, which are located in
chromosomes.

Gene
• Pedigree
• A diagram that shows the pattern of
inheritance of a gene in a family.
• Sex-Linked Traits
• Traits carried by X or Y chromosome

• Example: Colorblindness .. Carried on X

chromosome
genotypes…
Why is it
XiXi X iY more
common in
X BXi X BY males?
X BX B
 Genetic Disorders
• Types of Genetic Disorders
• Autosomal Recessive Genetic Disorders

• Autosomal Dominant Genetic Disorders

• Nondisjunction Genetic Disorders

• Sex-Linked Nondisjunction Genetic Disorders

 Autosomal Recessive Genetic Disorders
Cystic
fibrosis Phenylketonuria Galactosemia
(1:3900) (1:18000) (1:55000)

On chromosome 7 On chromosome 12 On chromosome 9

affects how Affects ability to

Affects respiratory /
body breaks break down
digestive sys.
down protein. galactose

Mutation in gene prevents liver enzyme Lack enzyme called

that affects salt (PAH) from breaking GATL (which
movement, thus down phenylalanine., converts galactose
produces thick sticky which builds up in blood & into glucose).
mucous on outside of poisons nerve cells in Galactose build up
cell. This mucous brain. in the blood.
clogs airways
 Autosomal DominantGenetic Disorders
Breast
Cancer Huntington's Colon Cancer
(5-10% of patients) (1:30000) (~80% of patients)

On chromosome 17 On chromosome 4 On chromosome 5

or 13
brain disorder that Have family history
affects a person's – at greater risk ;
ability to think, risk increases
Rarely inherited … talk, and move.
but can inherit gene when a relative got
it before 50--high-
have a high #of CAG risk, because may
triplets (>40). Somehow have inherited one
brain cells accumulate rare genetic
clumps of protein that condition: FAP
become toxic. Some (familial
patients lose > 25% of adenomatous
their brain cells before polyposis).
they die.
 Aneuploidy
• Abnormal number of chromosomes
• Trisomy disorders are considered major chromosomal
abnormalities that involve the addition of an extra
chromosome or part of a chromosome. Most individuals
will only have two copies of a single chromosome one that
was received from Mom and one received from Dad.
• These disorders are caused by a nondisjunction during the
process of meiosis and other factors.
• 1/5 of all conceptions and about 1/2 of all spontaneous
abortions have chromosome abnormalities
 Nondisjunction
• When chromosomes don't separate properly during
meiosis.
• results in gametes w/ too many or few chromosomes.
Nondisjunction Genetic Disorders

• Downs syndrome/Trisomy 21

• Patau syndrome/Trisomy 13

• Edwards syndrome/Trisomy 18
 Trisomy 21 / Down Syndrome
(1:800)

• Individuals have partial or total addition of

chromosome number 21
• Symptoms
– Mental retardation distinctive eyes
– enlarged tongue short stature
– enlarged heart low body tone
– decreased life expectancy small ears
– Slanted palpebral Fissures Flat face
Trisomy 21
 Trisomy 13 – Patau syndrome
(1:10000)

• Symptoms • Only 18% survive the

– defects of eye, nose, first year
lip, and forebrain • Survivors have severe
– Polydactyly (more then mental defects
5 fingers or toes)
• seizures
– hyperconvex
fingernails (arches
down)
Trisomy 13
 Trisomy 18- Edwards syndrome
(1:3000)
• Clenched hand
• Distinct patterns on the
fingertip
• Low Arch Dermal - the
crease on tip the 5th finger
is missing.
• 80% die w/in first two
months
• Only 10% survive the first
year
• Usually feeble (weakness)
• Limited capacity for
survival
• Resuscitation (artificial
breathing) often
performed at birth
• apneic episodes neonatally
(stop breathing during
sleep)
Trisomy 18
 Trisomy Disorders

• Almost all other trisomy situations result in

death of the fetus
• Trisomy means there are 3 chromosomes in
one location
 Triploidy and Tetraploidy
• 1-2% of all
pregnancies
• Scarcely any triploids
are born alive
• Arise from double
fertilization
Sex linked Nondisjunction Genetic Disorders

• Turner syndrome

• Klinefelter syndrome

• Fragile-X syndrome
 Sex Chromosome Abnormalities

• A normal female has two X chromosomes

• A normal male has an X and a Y
chromosome
• There are several disorders where additional
sex chromosomes are present
 Turner Syndrome
• Females with only one X sex chromosomes
• Physical Characteristics
– Short stature
– Web neck
– Infertile
– Normal intelligence
– Low posterior hairline
– broad chest with widely spaced nipples
– elevated frequency of renal (kidney) and cardiovascular
anomalies
Turner Syndrome
 Klinefelter Syndrome
• XXY
• First sex chromosome abnormality to be reported
• Tall, thin relatively long legs
• appear normal until puberty
• Hypogonadism (sex hormones are not released)
• Infertile due to undeveloped sex orgnas
• significantly reduced IQ
Klinefelter Syndrome
 Fragile X Syndrome
• In males the lower portion of the X chromosome appears
constricted in a karyotype.
• Moderate mental retardation
• Fragile site - chromatin fails to condense during mitosis
• Females who carry the trait may also show
symptoms
• long face with a prominent jaw, large prominent ears,
high arched palate; flattened nasal bridge; Prominent
forehead
Fragile X Syndrome
Fragile x syndrome is like Autism
• Developmental delay, speech delay, short attention span or
hyperactivity, mouthing of objects persisting at an age
beyond expected, difficulty in disciplining the child,
frequent temper tantrums, autistic-like behaviors such as
rocking, talking to oneself, spinning, unusual hand
movements, difficulty with transitions, preference for
being alone, echolalia, poor eye contact; poor motor
coordination; history of vomiting, spitting up or colic
during infancy; history of self-abusive behavior; hand
flapping; drooling persisting beyond expected; increase
fighting with others; hand/thumb sucking.
General Human Genetic
Disorders
 Achondroplasia
• Dwarfism- small • 90% of cases are fresh
stature mutations
• Large head • Older paternal age is a
• Skeletal disorders contributing factor to
• Narrow nasal passages mutation
• Respiratory problems
Achondroplasia
 Marfan Syndrome

• Tall stature with long slim limbs

• Low tone muscles
• Little subcutaneous or skin fat
• 60% scoliosis
• Heart disorders (thought that Abraham
Lincoln had this disorder)
Marfan Syndrome
 Progeria Syndrome
• Hutchinson-Gilford Progeria
Syndrome or premature aging
disease.
• Noticeable 18-24 months of
age.
• Life expectancy 8-21 years
with an average of 14 years
• Research on these individuals
are done to help us
understand the aging process
 Progeria Syndrome
• Aged looking skin
• Growth failure
• Hip dislocation
• Arthritis, joint stiffness
• Cardiovascular atherosclerosis disease and stroke,
eventually leading to death.
• Enlarged heart and high blood pressure
• Not specific to sex or ethnicity
Progeria Syndrome
 Taratogens

• Any agent that can produce a malformation

or raise the population incidence of a
malformation.
• Most known teratogens are infectious
agents, radiation or drugs (alcohol, cocaine,
Tetracycline and Streptomycin- antibiotic,
Anticonvulsants)
 FAS (Fetal Alcohol Syndrome)
• Maternal alcohol – Flat fultrum
consumption – enlarged head
• Major cause of mental – neurological disorders
retardation
• Growth retardation
• Skeletal defects
• Heart defects
FAS
 Metabolic Disorders

• These disorders are characteristic of a

breakdown of a biochemical pathway which
can cause minor problems or major
problems.
• Several of these disorders
 Tay’sachs
• Blindness • Death in early childhood
• Severe mental and by 5 years of age.
physical deterioration • Lethal autosomal
(normal to 6 months). recessive disorder with
• A missing enzyme causes high frequency in a
progressive nerve cell specific, genetically
damage. isolated population
• Leading to seizures and • first disorder where large
paralysis. scaled screening was
performed
 Tay’sachs

3-5 year old with advanced Taysachs

Goggle.com
 Phenylketonuria (PKU)
• Autosomal recessive trait. • Colorado performs a
• Causes severe mental mandatory test for all
retardation, skin rashes, newborns (heal prick)
irritable behavior, musty • A strict non-animal
body odor. protein diet must be
• Cannot degrade the amino followed (eggs, meat, milk
acid phenylalanine which etc.) throughout
accumulates in body fluids adolescence and possibly
preventing the brain from adulthood.
growing and developing • Blood is monitored for
normally. ones whole life.
• 1/10,000 live births
Phenylketonuria (PKU)
 Genomic Imprinting

• The expression of the disease phenotype

depends on whether it has been inherited
from the father or from the mother.
• Prader-Willi Syndrome vs. Angelman’s
Syndrome
 Prader-Willi Syndrome
• Obesity
• Small hands and feet
• Short stature
• Mental retardation
• Do not produce the chemical
that tells them they are full
• Severely over weight
• Their crave for food can be so
server that parents have to lock
their refrigerators
• Inherited from the mother
 Angelman’s Syndrome
• “Happy Puppets”
disorder
• Mental Retardation
• Can understand
only simple
commands
• Inappropriate
laughter
 This is the end….

Use your knowledge to be

compassionate and kind towards
others.