Chromosomal Disorders and Syndromes in Humans
Human chromosomes
There are 46 chromosomes
(23 homologous pairs) in each
somatic cell
22 pairs of autosomes
1 pair of sex chromosomes
XX = Female, XY = Male
Karyotype - chromosomes are
arranged according to shape
and size
A
A
N
N
E
E
X
X
T
T
R
R
A
A
C
C
O
O
P
P
Y
Y
O
O
F
F
C
C
H
H
R
R
O
O
M
M
O
O
S
S
O
O
M
M
E
E
2
2
1
1
C
C
A
A
U
U
S
S
E
E
S
S
D
D
O
O
W
W
N
N
S
S
Y
Y
N
N
D
D
R
R
O
O
M
M
E
E
T
T
h
h
i
i
s
s
c
c
o
o
n
n
d
d
i
i
t
t
i
i
o
o
n
n
i
i
s
s
c
c
a
a
l
l
l
l
e
e
d
d
t
t
r
r
i
i
s
s
o
o
m
m
y
y
2
2
1
1
.
.
Person with this condition suffers from
Person with this condition suffers from
the Down syndrome.
the Down syndrome.
Characteristic facial features:
Characteristic facial features:
Round face
Round face
Flattened nose bridge
Flattened nose bridge
Small, irregular teeth
Small, irregular teeth
Short stature
Short stature
Heart defects
Heart defects
K
l
i
n
e
f
e
l
t
e
r
'
s
s
y
n
d
r
o
m
e
,
4
7
,
X
X
Y
It is
the most common
sex
chromosome
d
isorder
and
the second most common
condition caused by the
presence of extra
chromosomes
Symptoms:
-
Language impairment
-
Lanky, youthful build or
rounded body type
-
Low levels of Testosterone
and small testicles /
Infertile
Turner’s Syndrome (X)
Common symptoms
:
Short stature
swelling of the hands and feet
Broad chest and widely spaced nipples
Low hairline
Low-set ears
Reproductive sterility
Increased weight, obesity
Small fingernails
Characteristic facial features
Webbed neck
T
T
r
r
i
i
s
s
o
o
m
m
y
y
1
1
3
3
,
,
1
1
8
8
a
a
n
n
d
d
2
2
3
3
A healthy egg or sperm cell contains
23 individual chromosomes - one to
contribute to each of the 23 pairs of
chromosomes needed to form a
healthy, 46 chromosome cell.
However, sometimes egg and sperm
cells are left with 24 (or more)
chromosomes. It is the joining of these
egg or sperm cells that eventually
cause a trisomy fetus to be formed.
Trisomy 18 – Edward Syndrome
Trisomy 18 – Edward Syndrome
Because Trisomy 18 is caused by non-
disjunction, it cannot be passed on to
future generations.
In addition, babies diagnosed with
Edwards syndrome rarely live past 5-6
days; fetuses identified with Trisomy 18
are often miscarried or aborted.
How Is it Diagnosed?
How Is it Diagnosed?
Edwards' syndrome at birth may be
diagnosed by the physical abnormalities
characteristic to the syndrome.
In addition, physical examination of the
infant may show arched type fingerprint
patterns and xrays may reveal a short
breast bone.
Definitive diagnosis is achieved through
karyotyping, which involves drawing the
baby's blood for a microscopic
examination of the chromosomes.
How Is it Diagnosed?
How Is it Diagnosed?
Edwards' syndrome can be detected
before birth. If a pregnant woman is older
than 35, has a family history of genetic
abnormalities, has previously conceived a
child with a genetic abnormality, or has
suffered earlier miscarriages, she may
undergo tests to determine whether her
child carries genetic abnormalities.
Potential tests include maternal serum
alpha-fetal protein analysis or screening,
ultrasonography, amniocentesis, and
chorionic villus sampliing.
How Is it Treated?
How Is it Treated?
There is no cure for Edwards syndrome.
Ninety to 95 % of all babies born with it die
within a year of birth. The few infants that
do survive need special treatment--ranging
from muscular therapy to nervous system
and skeletal corrections--for their various
handicaps.
Patau Syndrome
Trisomy 13
Description
•
Patau syndrome - also known as
trisomy 13.
•
Affects about 1 in 12,000 live births.
•
More than 80% of infants with Patau
syndrome die within their first year of
life.
Common Problems
Nervous system problems:
Nervous system problems:
•
Mental and motor disabilities similar to that of autism
Mental and motor disabilities similar to that of autism
•
Microcephaly, or a less rounded brain resulting in more of
Microcephaly, or a less rounded brain resulting in more of
an egg-shaped skull
an egg-shaped skull
•
Eye structure defects:
Eye structure defects:
•
Microphthalmia, or crossed eyes (may involve one eye
Microphthalmia, or crossed eyes (may involve one eye
or both)
or both)
•
Cataracts
Cataracts
•
Sensory Nystagmus, or involuntart “twitching” of the
Sensory Nystagmus, or involuntart “twitching” of the
eye
eye
•
Optic nerve hypoplasia, or the underdevelopment of the
Optic nerve hypoplasia, or the underdevelopment of the
optic nerve
optic nerve
Common Problems cont.
Muscular and skin problems:
Muscular and skin problems:
•
Polydactyly, or extra fingers/toes
Polydactyly, or extra fingers/toes
•
Low-down ears
Low-down ears
•
Prominent heels and deformed feet, called ‘rocker-
Prominent heels and deformed feet, called ‘rocker-
bottom’ feet
bottom’ feet
•
Strange palm patterns, commonly called the Simian
Strange palm patterns, commonly called the Simian
line
line
•
Overlapping of the fingers over thumb
Overlapping of the fingers over thumb
•
Cleft palate
Cleft palate
Treatment
•
There is no treatment to address the condition.
However, there are procedures to sustain life for
a bit.
•
Most times, surgery is required to fix defects to
allow the child to survive for as long as possible.
•
Since most infants with Patau syndrome die
within the first year of life, special
management/procedures are necessary; this is
very complex and carefully laid out. Many
children have trouble surviving the first few days
or weeks of life due to severe neurologic and
vascular problems.
What is Triple X syndrome?
What is Triple X syndrome?
Triple X syndrome is a disability of the chromosomes that affects
about 1 in 1,000 females. Females usually have one X chromosome
from each parent but in Triple X syndrome, the female has 3 X
chromosomes. This usually results in an error in the formation of a
mother’s egg and the father’s sperm cell. Normally people have 46
chromosomes, which is 23 pairs. This condition is genetic but its not
inherited.
Symptoms
Symptoms
Triple X syndrome may not cause any signs or
symptoms. If they do appear, it may include:
•
Tall stature
•
Small head (microcephaly)
•
Vertical skin folds that may cover the inner
corners of your eyes
•
Delayed development of certain motor skills,
speech and language
•
Learning disabilities such as dyslexia
•
Weak muscle tone
•
Seizures
•
Kidney abnormalities
Treatments
Treatments
Treatment is based on your symptoms. For
instance, if she has a learning disability, she
would require some counseling. If your daughter
has been diagnosed with Triple X syndrome,
your doctor may recommend periodic
screenings throughout childhood. Psychological
counseling may help if your daughter is
becoming stressed. The chromosome change
cannot be repaired, so this syndrome has no
cure. However, if you do treat your symptoms
you can live life normally despite your syndrome.
Treatments
Treatments
Treatment is based on your symptoms. For
instance, if she has a learning disability, she
would require some counseling. If your daughter
has been diagnosed with Triple X syndrome,
your doctor may recommend periodic
screenings throughout childhood. Psychological
counseling may help if your daughter is
becoming stressed. The chromosome change
cannot be repaired, so this syndrome has no
cure. However, if you do treat your symptoms
you can live life normally despite your syndrome.
Human chromosomes play a crucial role in determining genetic traits and health conditions. An extra copy of chromosome 21 leads to Down syndrome, while conditions like Klinefelter's syndrome, Turner's syndrome, Trisomy 13, 18, and 23 have distinct symptoms and implications. Trisomies result from abnormal cell division during egg or sperm formation. Diagnosis and implications of disorders like Edward's syndrome are also discussed. Chromosomal disorders have significant impacts on physical and cognitive development.
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Presentation Transcript
Human chromosomes There are 46 chromosomes (23 homologous pairs) in each somatic cell 22 pairs of autosomes 1 pair of sex chromosomes XX = Female, XY = Male Karyotype - chromosomes are arranged according to shape and size
AN EXTRA COPY OF CHROMOSOME 21 CAUSES DOWN SYNDROME This condition is called trisomy 21. Person with this condition suffers from the Down syndrome. Characteristic facial features: Round face Flattened nose bridge Small, irregular teeth Short stature Heart defects
Klinefelter's syndrome, 47, XXY It is the most common sex chromosome disorder and the second most common condition caused by the presence of extra chromosomes Symptoms: - Language impairment - Lanky, youthful build or rounded body type - Low levels of Testosterone and small testicles / Infertile
Turners Syndrome (X) Common symptoms: Short stature swelling of the hands and feet Broad chest and widely spaced nipples Low hairline Low-set ears Reproductive sterility Increased weight, obesity Small fingernails Characteristic facial features Webbed neck
A healthy egg or sperm cell contains 23 individual chromosomes - one to contribute to each of the 23 pairs of chromosomes needed to form a healthy, 46 chromosome cell. However, sometimes egg and sperm cells are left with 24 (or more) chromosomes. It is the joining of these egg or sperm cells that eventually cause a trisomy fetus to be formed.
Trisomy 18 Edward Syndrome Because Trisomy 18 is caused by non- disjunction, it cannot be passed on to future generations. In addition, babies diagnosed with Edwards syndrome rarely live past 5-6 days; fetuses identified with Trisomy 18 are often miscarried or aborted.
How Is it Diagnosed? Edwards' syndrome at birth may be diagnosed by the physical abnormalities characteristic to the syndrome. In addition, physical examination of the infant may show arched type fingerprint patterns and xrays may reveal a short breast bone. Definitive diagnosis is achieved through karyotyping, which involves drawing the baby's blood for a microscopic examination of the chromosomes.
How Is it Diagnosed? Edwards' syndrome can be detected before birth. If a pregnant woman is older than 35, has a family history of genetic abnormalities, has previously conceived a child with a genetic abnormality, or has suffered earlier miscarriages, she may undergo tests to determine whether her child carries genetic abnormalities. Potential tests include maternal serum alpha-fetal protein analysis or screening, ultrasonography, amniocentesis, and chorionic villus sampliing.
How Is it Treated? There is no cure for Edwards syndrome. Ninety to 95 % of all babies born with it die within a year of birth. The few infants that do survive need special treatment--ranging from muscular therapy to nervous system and skeletal corrections--for their various handicaps.
Patau Syndrome Trisomy 13
Description Patau syndrome - also known as trisomy 13. Affects about 1 in 12,000 live births. More than 80% of infants with Patau syndrome die within their first year of life.
Common Problems Nervous system problems: Mental and motor disabilities similar to that of autism Microcephaly, or a less rounded brain resulting in more of an egg-shaped skull Eye structure defects: Microphthalmia, or crossed eyes (may involve one eye or both) Cataracts Sensory Nystagmus, or involuntart twitching of the eye Optic nerve hypoplasia, or the underdevelopment of the optic nerve
Common Problems cont. Muscular and skin problems: Polydactyly, or extra fingers/toes Low-down ears Prominent heels and deformed feet, called rocker- bottom feet Strange palm patterns, commonly called the Simian line Overlapping of the fingers over thumb Cleft palate
Treatment There is no treatment to address the condition. However, there are procedures to sustain life for a bit. Most times, surgery is required to fix defects to allow the child to survive for as long as possible. Since most infants with Patau syndrome die within the first year of life, special management/procedures are necessary; this is very complex and carefully laid out. Many children have trouble surviving the first few days or weeks of life due to severe neurologic and vascular problems.
What is Triple X syndrome? Triple X syndrome is a disability of the chromosomes that affects about 1 in 1,000 females. Females usually have one X chromosome from each parent but in Triple X syndrome, the female has 3 X chromosomes. This usually results in an error in the formation of a mother s egg and the father s sperm cell. Normally people have 46 chromosomes, which is 23 pairs. This condition is genetic but its not inherited.
Symptoms Triple X syndrome may not cause any signs or symptoms. If they do appear, it may include: Tall stature Small head (microcephaly) Vertical skin folds that may cover the inner corners of your eyes Delayed development of certain motor skills, speech and language Learning disabilities such as dyslexia Weak muscle tone Seizures Kidney abnormalities
Treatments Treatment is based on your symptoms. For instance, if she has a learning disability, she would require some counseling. If your daughter has been diagnosed with Triple X syndrome, your doctor may recommend periodic screenings throughout childhood. Psychological counseling may help if your daughter is becoming stressed. The chromosome change cannot be repaired, so this syndrome has no cure. However, if you do treat your symptoms you can live life normally despite your syndrome.
Treatments Treatment is based on your symptoms. For instance, if she has a learning disability, she would require some counseling. If your daughter has been diagnosed with Triple X syndrome, your doctor may recommend periodic screenings throughout childhood. Psychological counseling may help if your daughter is becoming stressed. The chromosome change cannot be repaired, so this syndrome has no cure. However, if you do treat your symptoms you can live life normally despite your syndrome.
