Developmental Genetic Defects

DEVELOPMENTA
L GENETIC
DEFECTS.
E T I
GE N
C
O R D
I S
D cau?se y a d in
s e a sE
e R p a rt b
Adi oin
r A
D N
o l e t h e o m
wh ge in y f r
n a w a n c e .
c h a c e q u e
u e n l se
s e q rm a
n o
the
Take a look!!!
THESE ARE SOME OF THE GENETIC DISORDERS

GENETIC DISORDERS
1.SINGLE GENE DISORDER
• Autosomal dominant.
• Autosomal recessive.
• Sex-linked dominant.
• Sex linked recessive.
2.CHROMOSOMAL ABNORMALITIES
• Change in no of chromosomes.
5
o Changes in structure of chromosomes.
o Can be autosomal or allosomal.
o 3.MITOCHONDRIAL DISORDERS
o 4. MULTIFACTORIAL DISORDERS
6
Classification of genetic disorders
● Multifactorial + environment
● Single gene
Male
● Chromosomal
● Mitochondrial
Genetic Disorders
Autosomal Disorders
● Autosomal gene: One of 22 pairs of autosomes

that are involved in sex determination
● Autosomal recessive disorder: 2 copies of the

abnormal gene must be present for the disease or
trait to develop.
● Autosomal dominant disorder: abnormal gene

from 1 parent sufficient to inherit disease or trait
Dominant
Heterozygous with one copy of the altered gene are
affected
Recessive
Homozygous with two copies of the altered gene are affected
X-linked recessive
Males with one copy of the altered gene on the
X-chromosome are affected
Male
Autosomal Dominant Disorders:
• Affected person usually has an affected parent.
Huntington’s disease
Marfan Syndrome
Myotonic Dystrophy
Autosomal Recessive Disorders:
● Parents of affected are usually asymptomatic

Red–Green
carriers. Two copies of affected genes should be
Cystic
present.
Fibrosis
Colorblindness
Hemophilia
Sickle cell anemia
Fragile X Syndrome
Phenylketonuria
Genetic Disorders
Sex-Linked Disorders
X- linked recessive disorders: Caused by

recessive gene on X chromosome
Red–Green
Colorblindness
Hemophilia
Fragile X Syndrome
Genetic Disorders
Sex-Linked Disorders
X-linked Dominant disorders: Caused by

dominant gene on X chromosome. Affects either
sex, but more females than males.
Alport syndrome
Rett syndrome
Goltz syndrome
Chromosomal Errors
Trisomies and Monosomies
• Trisomies: Three chromosomes, rather than

usual pair
• Monosomies: Absence of one member of

chromosome pair
Chromosomal Errors
Sex Chromosome Anomalies
▪ XXY: Klinefelter’s syndrome
▪ XO: Turner’s syndrome
▪ XXX: girls with an extra X-Triple X syndrome
▪ XYY: boys with an extra Y- Jacob’s syndrome

TURNER’S SYNDROME
SWOLLEN HANDS AND LOW HAIRLINE
Klinefelter Syndrome
WILLIAM’S SYNDROME
•Deletion of 26 chromosomes from the long arm of
Chromosome no 7.
Cri Du Chat Syndrome
• Cat-like cry due to problem with the larynx and
nervous system.
• Caused by deletion of part of the short arm of
chromosome 5
• Results in an abnormally small head with a
deﬁciency in cerebral brain tissue.
• Widely spaced eyes and mental retardation
DiGeorge Syndrome
•A Micro deletion syndrome.
•Caused by the deletion of a small piece
chromosome 22.
MARFAN’S SYNDROME
• Autosomal dominant disorder.
• A genetic disorder that affects body’s
connective tissue.
• Mutation in gene that determines the
structure of ﬁbrillin.
• Unusually tall, long limbs.
HUNTINGTON’S DISEASE
•Caused by the inheritance of a dominant gene.
•Affects the nervous system.
•Produces incorrect protein that eventually leads to
destruction of brain cells.
•Symptom’s include abnormal body movements,
lack of coordination, impaired mental abilities and
altered personality.
•Patients generally live 15 to 20 years after the
appearance of the first symptoms.
•Currently no cure.
PHENYLKETONEURIA
Phenylketonuria
(PKU) is a rare
inherited condition
in which there is a
build up of
phenylalanine in
the body. Untreated
PKU can lead
to intellectual
disability, seizures,
and other serious
medical problems.
SICKLE CELL ANEMIA
•Autosomal recessive
•Due to mutation-glutamic acid is replaced by v
change Hb structure.
•SYMPTOMS:
•Severe pain
•Anemia
•Chest pain and difficulty breathing.
•Blockage of blood flow.
•Strokes.
An X linked recessive disorder
Hemophilia genetics
RETT SYNDROME
• X-linked dominant disorder.
• Usually affects girls.
• It’s a rare but severe brain disorder.
• No cure.
• Symptoms include : Slowing of head growth,
loss of muscle tone, around 1-4 yrs social and
language skills deteriorate; jerky, stiff- legged
gait; uncoordinated breathing and seizures.
PEARSON SYNDROME
• A mitochondrial disease caused by a deletion
in mitochondrial DNA (mtDNA).
• Very rare.
• Transmitted by maternal inheritance.
• Involves the bone marrow and exocrine

pancreas.
• Characterized by sideroblastic anemia,

muscle and neurologic impairment, frequently
early death.
CONCLUSION:
Not all genetic disorders result directly in death,
however there are no known cures for genetic
disorders.
It is also to be noted that many of the genetically
defective embryos undergo abortion and that is the
reason why such individuals are not very common.
BY: JISHMA.M.JUSTINE
15-PZO-10

Developmental Genetic Defects

Uploaded by

Copyright:

Available Formats

Developmental Genetic Defects

Uploaded by

Document Information

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Developmental Genetic Defects

Uploaded by

Copyright:

Available Formats

DEVELOPMENTA

THESE ARE SOME OF THE GENETIC DISORDERS

● Autosomal gene: One of 22 pairs of autosomes

● Autosomal recessive disorder: 2 copies of the

● Autosomal dominant disorder: abnormal gene

• Affected person usually has an affected parent.

● Parents of affected are usually asymptomatic

X- linked recessive disorders: Caused by

X-linked Dominant disorders: Caused by

• Trisomies: Three chromosomes, rather than

• Monosomies: Absence of one member of

▪ XO: Turner’s syndrome

▪ XXX: girls with an extra X-Triple X syndrome

▪ XYY: boys with an extra Y- Jacob’s syndrome

• Transmitted by maternal inheritance.

• Involves the bone marrow and exocrine

• Characterized by sideroblastic anemia,

You might also like