This document provides information on various genetic mutations and disorders. It discusses different types of mutations such as point mutations and chromosomal mutations involving inversions, translocations, deletions and duplications. It also describes genetic disorders caused by nondisjunction resulting in trisomies like Down syndrome, Edwards syndrome, and Patau syndrome. Additionally, it discusses sex chromosome abnormalities including Turner syndrome, Klinefelter syndrome, and Fragile X syndrome. Finally, it summarizes several other genetic disorders involving metabolic, skeletal, and imprinting abnormalities.

1. MUTATIONS &
GENETIC
DISORDERS
Genetika
Manusia

2. MUTATIONS
Mutation:
Any mistake or change in the DNA
sequence
Point mutation:
Change in one
nitrogen base in
DNA
Ex: albinism

3. Changes in chromosome
structure
Chromosomal Mutation:
1) INVERSION :
the order of genes on a
chromosome is inverted
2) TRANSLOCATION :
the movement of a
chromosome fragment to
a nonhomologus
chromosome

4. 3. DELETION :
Loss of a few bases
Loss of large regions
of a chromosome
4. DUPLICATION
• Duplication of a few
bases
• Duplication of large
regions of a
chromosome

5. CROSSING OVER
Occurs when
chromosomes
exchange genes.
2 chromosomes
overlap.
Some genes
cross over and
switch places

6. NONDISJUNCTION
Nondisjunction:
chromosome pair fails
to separate properly
during meiosis
Monosomy:
gamete has 1 less
chromosome than it
should
45 chromosomes
is the result
Ex: Turner syndrome
 Missing a sex
chromosome

7. Trisomy:
 Gamete has 1 more chromosome than it s
 Result is 47 chromosomes
Ex: Down’s Syndrome (extra #21 chromos

8. METHODS OF DETECTION
Ultrasound:
Sound waves are used
to
generate an image of
the
unborn child.
Chorion villi sampling:
•Take sample of the chorion
–(membrane surrounding
fetus)
•Chemical tests and Karyotyping
performed

9. Amniocentesis:
•Fluid surrounding the fetus is drawn
out by needle
•Fetal cells are collected and grown in
a lab.
•Chromosomes can be then
Karyotyped

10. 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.

11. 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.

12. HUMAN GENETICS
Heredity
 The passing-down of traits from
parent to child through genes, which
are located in chromosomes.
Gene

13. Pedigree
 A diagram that shows the pattern of
inheritance of a gene in a family.

14. Sex-Linked Traits
Traits carried by X or Y chromosome
Example: Colorblindness .. Carried on X
chromosome
genotypes…
i
B
X
X
i
i
X
X
B
B
X
X
Y
X i
Y
X B
Why is it more
common in
males?

15. GENETIC DISORDERS
Types of Genetic Disorders
Autosomal Recessive Genetic
Disorders
Autosomal Dominant Genetic
Disorders
Nondisjunction Genetic Disorders
Sex-Linked Nondisjunction Genetic
Disorders

16. Cystic fibrosis
Phenylketonur
ia
Galactosemia
(1:3900) (1:18000) (1:55000)
On chromosome 7 On chromosome 12 On chromosome 9
Affects respiratory /
digestive sys
affects how body
breaks down protein.
Affects ability to
break down galactose
Mutation in gene that
affects salt
movement, thus
produces thick sticky
mucous on outside of
cell. This mucous
clogs airways
prevents liver enzyme
(PAH) from breaking
down phenylalanine.,
which builds up in
blood & poisons nerve
cells in brain.
Lack enzyme called
GATL (which converts
galactose into
glucose). Galactose
build up in the blood.
Autosomal Recessive Genetic Disorder

17. Breast Cancer Huntington's Colon Cancer
(5-10% of patients) (1:30000) (~80% of patients)
On chromosome 17 or
13
On chromosome 4 On chromosome 5
Rarely inherited … but
can inherit gene
brain disorder that
affects a person's
ability to think, talk,
and move.
Have family history –
at greater risk ;
risk increases when a
relative got it before
50--high-risk: FAP
(familial adenomatous
polyposis).
have a high #of CAG
triplets (>40). Somehow
brain cells accumulate
clumps of protein that
become toxic. Some
patients lose > 25% of
Autosomal Dominant Genetic Disorders

18. 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

19. NONDISJUNCTION
When chromosomes don't separate properly
during meiosis.
results in gametes w/ too many or few
chromosomes.

20. Nondisjunction Genetic Disord
 Downs
syndrome/Trisomy 21
 Patau syndrome/Trisomy
13
 Edwards
syndrome/Trisomy 18

21. TRISOMY 21 / DOWN
SYNDROME
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
(1:800)

22. TRISOMY 21

23. TRISOMY 13 – PATAU
SYNDROME
Symptoms
defects of eye, nose,
lip, and forebrain
Polydactyly (more
then 5 fingers or
toes)
hyperconvex
fingernails (arches
down)
Only 18% survive the
first year
Survivors have severe
mental defects
seizures
(1:10000)

24. TRISOMY 13

25. TRISOMY 18- EDWARDS
SYNDROME
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)
(1:3000)

26. TRISOMY 18

27. TRISOMY DISORDERS
Almost all other trisomy situations
result in death of the fetus
Trisomy means there are 3
chromosomes in one location

28. TRIPLOIDY AND
TETRAPLOIDY
1-2% of all
pregnancies
Scarcely any
triploids are born
alive
Arise from double
fertilization

29. Sex linked Nondisjunction
Genetic Disorders
 Turner syndrome
 Klinefelter
syndrome
 Fragile-X
syndrome

30. 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

31. 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

32. TURNER SYNDROME

33. 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

34. KLINEFELTER SYNDROME

35. 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

36. FRAGILE X SYNDROME

37. FRAGILE X SYNDROME IS LIKE
AUTISM
Symptoms:
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

38. GENERAL HUMAN
GENETIC
DISORDERS

39. ACHONDROPLASIA
Dwarfism- small
stature
Large head
Skeletal disorders
Narrow nasal
passages
Respiratory
problems
90% of cases are
fresh mutations
Older paternal age
is a contributing
factor to mutation

40. ACHONDROPLASIA

41. 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)

42. MARFAN SYNDROME

43. 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

44. 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

45. PROGERIA SYNDROME

46. TERATOGENS
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)

47. FAS (FETAL ALCOHOL
SYNDROME)
Maternal alcohol
consumption
Major cause of
mental retardation
Growth retardation
Skeletal defects
Heart defects
Flat fultrum
enlarged head
neurological
disorders

48. FAS

50. METABOLIC DISORDERS
These disorders are characteristic of a
breakdown of a biochemical pathway
which can cause minor problems or
major problems.

51. TAY’SACHS
Blindness
Severe mental and
physical
deterioration
(normal to 6
months).
A missing enzyme
causes progressive
nerve cell damage.
Leading to
seizures and
Death in early
childhood by 5 years
of age.
Lethal autosomal
recessive disorder
with high frequency in
a specific, genetically
isolated population
first disorder where
large scaled screening
was performed

52. TAY’SACHS
3-5 year old with advanced Taysachs
Goggle.com

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

54. PHENYLKETONURIA
(PKU)

55. 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

56. 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

57. ANGELMAN’S SYNDROME
“Happy Puppets”
disorder
Mental
Retardation
Can understand
only simple
commands
Inappropriate
laughter

58. S E L E S A I
Use your knowledge
to be compassionate
and kind towards
others.