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Block No: 11, Shanthi Nagar, 2nd Lane, Sembium,(Perambur), Chennai, Tamil Nadu -600011
AISSCE CHEMISTRY
INVESTIGATORY PROJECT
Submitted by:
SAHANNA N.M
Class & Sec: XII M1
Reg. No:
Submitted to:
Mrs. V.Santhana Lakshimi
PGT in Biology
KRM Public School, Perambur, Chennai-11
KRM PUBLIC SCHOOL
Block No: 11, Shanthi Nagar, 2nd Lane, Sembium,(Perambur), Chennai, Tamil Nadu -600011
Certificate
3. Genetic Disorder
13. X Linked Recessive Disorder
4. Causes of Genetic
Disorder
14. Treatment for Genetic Disorder
18. Bibliography
8. Turner Syndrome
9. Klinefelter Syndrome
10.Structural Chromosomal
…….Disorder
GENETIC DISORDERS
INTRODUCTION:
Genes are the building blocks of heredity. They are passed from
parent to child. They hold DNA, the instructions for making proteins.
Proteins do most of the work in cells. They move molecules from one
place to
another, build
structures,
break down
toxins, and do
many other
maintenance
jobs.
• Chemical exposure.
• Radiation exposure.
• Smoking.
• UV exposure from
the sun.
How are genetic disorders
identified?
If you have a family history of a genetic disorder, you may wish to
consider genetic counselling to see if genetic testing is appropriate
for you. Lab tests can typically show whether you have gene
mutations responsible for that condition. In many cases, carrying the
mutation does not always mean you'll end up with it. Genetic
counsellors can explain your risk and if there are steps you can take
to protect your health.
1. Chromosomal:
This type affects the structures
that hold your genes/DNA within
each cell (chromosomes). With
these conditions, people are
missing or have duplicated
chromosome material.
2. Complex (multifactorial):
3.Mendelian disorder
(monogenic):
4. Mitochondrial:
Chromosomal abnormalities
• A short neck
• Small ears
• Cardiac defects
• Low hairline at the back
of the head
• Receding or small lower
jaw
• Short fingers and foes in
childhood, teens and
adulthood in childhood
teens and adulthood.
Klinefelter Syndrome (47, XXY)
Symptoms:
As an infant the child's cry is
described as sounding like a cat.
• Learning disabilities.
Early-onset:
• osteogenesis imperfecta
• Huntington disease
• Tuberculous sclerosis
• Neurofibromatosis
i. Autosomal dominant disease
Huntington's disease
Examples
• Incontinentia
Pigmenti
• Hypophosphatemic Rickets
• Charcot-Marie-Tooth disease
Examples
■ Haemophilia A and B
■Glucose-6-phosphate
dehydrogenase deficiency
■ Colour blindness
Bruton agammaglobulinemia
■Wescott-Aldrich syndrome
■Chronic granulomatous disease
■Diabetes insipidus
■ X-Linked Recessive
■ X-Linked Recessive
Colour-blindness (X linked
Recessive)
• Red/Green or Blue
colour blindness is
passed down from
parents.
followed are:
Self-care
Physical exercise and Special education
Therapies
Support group, Speech therapy, Occupational Therapy and Physical
Therapy
Devices
Glasses
Haemophilia / Treatments
Medications
Clotting promoter
Devices
Patient-controlled analgesia
Medications
Self-care
• Postural drainage
• Medical procedure
Recent
advancement
and
continuous
ongoing
projects in
gene therapy has seen wide improvements in patients.
Even though complete cure
has not been possible
patients are definitely
benefitted by this process.
Real Case Studies
CASE STUDY 1
7-year-old Sophie Green, who was born without arms
This 7-year-old girl was born without her arms but that
has not stopped her from having a positive outlook on
life. She taught herself how to do all of her daily jobs
using only her feet, such as eating, drawing and
writing.
BIBLIOGRAPHY: