Human Genome depicts several disorders owing to structural and numerical re-arrangements in chromosomes. Some of the aberrations have been dealt herewith.

1. Genomic Disorders
RISHABH GARG
Delhi Public School Bhopal

2. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
XO
Turner’s Syndrome
1 out of 25,000 births
• Short stature
• Webbed neck
• Low set ears
• Poorly developed breasts
• Degenerated ovaries
(only ridges of whitish tissue
are present)
• Rudimentary sexual
characteristics
• Intelligence : below average

3. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
XXY or XYY
Klinefelter’s Syndrome
1 out of 500 male births
• Degenerating testes
• Some degree of breast
enlargement
• Underdeveloped genitalia
• Sparse body hair
OR
• Usually tall
• Heavy acne of skin
• Aggressiveness
• Mild mental retardation

4. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
XXX
Triploid Female
• Super females
• Usually, infertile and
mentally retarded
• At times, fertile and normal

5. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Trisomy 13
Patau’s Syndrome
1 out of 1,000 births
• D-Trisomy
• Hare lip
• Cleft palate
• Sloping fore-head
• Small head and brain
• Defective eye development
• Internal organs severely
malformed
• Kidney and heart disorders
• Death by the age of 1 to 3
months

6. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Trisomy 15
• Multiple defects
• Death by the age of 1 to 3
months

7. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Trisomy 18
• Receding chin
• Ear helices scarcely
developed
• Head laterally compressed
• Defective nervous system
• Cardiac defects
• Hands short and exhibit little
development of second
phalanx
• Death by the age of one
year

8. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Trisomy 21
Down Syndrome or
Mongolism
• Moon like face with oblique palpebral fissures
• Epicanthus skin fold at the inner part of eyes
• Eyes widely separated
• Mental retardation
• Short stature
• Webbed neck
• Protruding furrowed tongue with constantly
opened mouth
• Short and stubby limbs
• Transverse palmer crease (Simian line)
• Wide gap between 1st and 2nd fingers of the
feet
• Susceptible to respiratory infections
• Prone to leukemia

9. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Trisomy 22
• Skeletal deformities
• Mental retardation
• Short stature
• Protruding furrowed tongue
• Transverse palmer crease
• Susceptible to respiratory
infections
• Prone to leukemia

10. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Monosomy 05
Cri-du-cat Syndrome
Lejeune (1963)
• Microcephaly
• Rounded moon like face
• Severe mental retardation
• Infant’s cry resembles with
mew of cat.

11. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Monosomy 21
Philadelphia chromosomes
(Peter Nowell & DA
Hongrford, 1960)
• Prominent nose
• Distance between eyes:
less than normal
• Enlarged ears
• Contracted muscles
• Possibilities of cancerous
malignancy -chronic
granulocytic leukemia,
arising in blood forming
tissue.

12. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Disorders Symptoms
Achondroplasia Dwarfs with short arms and legs
Most of them die in the first year
Tylosis Excessively thick skin on palms and soles
Anonychia Absence of some or all nails of the fingers and toes
Dentinogenesis imperfecta Crowns of teeth wear down
Polydactyly Extra fingers or toes
Brachydactyly Palm and fingers short, stocky and thick
Marfan’s Syndrome Unusually long and tapering fingers with poor
musculature
Hutington’s chorea Disorganized muscular movements
Progressive mental deterioration.

13. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Disorders Symptoms
Albinism Devoid of pigment in skin, hair and eyes
Poor vision, sensitive to sunlight and prone to cancer
Congenital ichthyosis Cracking and separation of skin into large scaly sections
Tay-Sach’s disease or
Infantile amaurotic idiocy
Nerves of brain and spinal cord exhibit marked signs of
deterioration (after six months of age)
At around one year, looses his eye sight, becomes
paralyzed
Death occurs by the age of 3 to 4 years
Cystis fibrosis High level of sweat electrolytes, pulmonary disease,
Cirrhosis of liver, pancreas secretes abnormally thick or
viscid mucus which blocks digestion, life expectancy 12
to 16 years
Infantile hypertrophic pyloric
stenosis
Obstruction of intestine by the age of 3 to 7 weeks

14. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Disorders Symptoms
Childhood
pseudo hypertrophic muscular
dystrophy
Muscles swell, undergo fatty degeneration
Progressive muscular deterioration leads to confinement
and death by 20-25 years of age
Haemophilia Chronic bleeding
Lesch-Nyhan Syndrome Slow paralysis, mental deficiency, self mutilation
Enzyme required for purine metabolism missing, leads to
gout
Protanopia and
Deuteronopia
Unable to distinguish between red and green colors due
to absence of red and green cone pigments
Sickle-cell anaemia Presence of inappropriate amino-acid in B-chain of
haemoglobin
Leads to distortion of R.B.C.

15. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders
Disorders Symptoms
Alkaptonuria Darkening of urine due to homogentisic acid
Pigmentation of cartilaginous and fibrous tissue,
Development of arthritis
Phenylketonuria Due to deficiency of enzyme- Phenyl alanine
hydroxylase

16. Rishabh Garg I Delhi Public School Bhopal
Genomic Disorders