A genetic disorder is a genetic problem caused by one or more abnormalities formed in the genome. Most genetic disorders are quite rare and affect one person in every several thousands or millions.

1. Presented by
M.S.VISHWANATH.
ID NO.: 2017021086.
Submitted to
Dr. M. Kanimoli Mathivathana.
Assistant Professor
Department of Plant Breeding and Genetics
COLLEGE OF AGRICULTURAL TECHNOLOGY
(Affiliated to Tamil Nadu Agricultural University,Coimbatore-3)
(Accredited by Indian Council of Agricultural Research, New Delhi)
Kullapuram (Po), Via Vaigai Dam, Theni - 625 562.

3. GENETIC
DISORDERS

4. A Genetic disorder is a genetic problems caused by
one (or) more abnormalities formed in the genome

5. Chromosom abnormaities
Single Genedefects
Multifactorial problems
Tetra genetic problems

6. ANGELMAN SYNDROME
Chromosome Number : 15 – Deletion
Symptoms : Lack of Crawling
Minimal speech
Inability to Walk
Treatment :Anti –Seizure Medicine and
Therapies

7. CANAVAN DISEASE
Chromosome Number : 17p – Deletion
Symptom : Feeding difficulties
Hearing loss
Brain atrophy
Treatment :Providingofhearingaid.

8. CHARCOT– MARIE TOOTHDISEASE
Chromosome Number : 17 – Deletion
Symptoms : Lack of Co-ordination
Decreased Muscle size
Decreased Sensation
Treatment : Physical exercise / Therapies
Brace and Splint devices

9. COLOURBLINDNESS
Chromosome Number : X – Point Mutation
Symptom : Inability to distinguish between shades of Red and Green
Treatment : Contact lenses and Glasses are available withfilters

10. CRI-DU-CHATDISEASE
Chromosome Number : 5 – Deletion
Symptoms : Mental Retardation
Widely spread eyes
Low birth weight
Treatment : Improve poor muscletone

11. CYSTICFIBROSIS SYNDROME
Chromosome Number : 7q – Point mutation
Symptoms : Repeated Lung infection
Fatty Stools
Treatment : Pneumococcal Vaccine
Chest Wall Oscilltion

12. DOWNSYNDROME
Chromosome Number : 21 – Chromosome abnormality
Symptoms : Delayed development
Lazy eye / Spots
Treatment : Speech Theraphy

13. DUCHENNEMUSCULAR DYSTROPHY
nChromosome Number : Xp – Deletio
Symptom : Frequent falls
Treatment :Steroid

14. FAMILIAL HYPERCHOLESTEROLEMIA
Chromosome Number : 19 – Point Mutation
Symptoms : Chest pain
Xanthomas
Treatment : Low DensityLipoprotein
(LDL) apheresis
Stain theraphy

15. HAEMOCHROMATOSIS
Chromosome Number : 6 –PointMutation
Symptoms :Arthiritis
Diabetes
Treatment : Blood Letting

16. HAEMOPHILIA
Chromosome Number : X – PointMutation
Symptoms : SpontaneousBleeding
Treatment : Clotting Parometer

17. KLINEFELTERSYNDROME
Chromosome Number : X –Chromosome abnormalities
Symptoms : Low testosterone
No Sperm production
Treatment : Testosterone Replacement
Fertility Treatment

18. NEUROFIBROMATOSIS
Chromosome Number : 17q / 22q – Chromosomal abnormality
Symptoms : Bone Deformitis
High Blood Pressure
Swellings and ChronicPain
Treatment :Chemotherapy
Radiation Theraphy

19. PHENYLKETONURIA
Chromosome Number : 12q –PointMutation
Symptoms : Braindamage
Intellectual Disabilities
Treatment : Strict Diet with limitedprotein

20. POLYCYSTICKIDNEY DISEASE
Chromosome Number : 16 – Point Mutation
Symptoms : High BloodPressure
Swollen Abdomen
Treatment : Cyst removal meditation

21. PRADER– WILLISYNDROME
Chromosome Number : 15 – Deletion
Symptoms : Intellectual Disabilty
Delayed Puberty
Treatment : Supervised Diet
Hormone theraphy

22. SICKLECELL ANEMIA
Chromosome Number : 11p – Point Mutation
Symptom : Infections
Pain Fatigue
Treatment :Vitamin
Blood Transfusion

23. TURNERSYNDROME
Chromosome Number : X – ChromosomalAbnormality
Symptoms : Delayed Puberty
Webbed neck
Heart Defects
Treatment : Fertility trearment

24. Reference:
Dhavendhar, K. 2006. Genetic disorders of Indian Subcontinent. Kluwer Academic Publishers. Pp :121-150
Rob, E. 2012. Molecular Diagnosis of Genetic Disorders. Humana Press. Pp :100-120
Teebi, A. S. 1997. Genetic Disorder among Arab Populations. Oxford University Press. Pp : 111-145.
Stefan, S. 2010. Genetic Diseases of the Kidney.2010.Library of Congress. Pp : 258-289
Plaseka-Dijana. 2011. Human Genetic Disease. Intech. Pp : 109-163