This document discusses human health and various chromosomal disorders. It defines human health as a state of physical, mental and social well-being. Chromosomal disorders occur due to missing, extra or irregular portions of chromosomal DNA. Some common chromosomal disorders discussed are Down syndrome, Turner syndrome, Klinefelter syndrome, Edward syndrome, and Duchenne muscular dystrophy. These disorders are caused by abnormalities in chromosomes and can result in various physical and intellectual anomalies. The document provides details on the prevalence, characteristics and effects of each disorder.

1. HUMAN HEALTH AND chromosomal
disorders

2.  Greeks like Hippocrates and Indian Ayurveda system
.
HEALTH-STATE OF BODY AND MIND
HUMAN HEALTH

3.  Humour-Body fluids.
 Any alteration in body fluid-causes
disease.
 Eg:-
Normal green colour of bile
changes to black- Development of
Fever

4. CHARACTERISTICS OF GOOD HEALTH
 Free from sickness and diseases.
 Free from social and psychological
tensions.
 Ability to work efficiently
 Free from unnecessary anxiety.
 Self confidence.
 Feeling joy in living.
 Physical fitness.

6. CHROMOSOMAL DISORDERS
 Thread like structures in which DNA is tightly packed within the
nucleus..
 The centromere is located at the cell’s constriction point ,which
may not be the centre of the chromosomes

7.  Chromosomal Anomalies=Missing,extra or irregular portion of
chromosomal DNA.
 Most foetus with some chromosomal abnormality do not survive.
 Affects approximately 1 out of 200 of new borns.
 Chromosomal anomalies can be detected via Karyotype testing.
 Abnormalities depends on type of chromosome affected due to
non-disjunction chromosomes.
DEFINITION AND PREVALANCE

8. PATAU SYNDROME
An additional chromosome 13 resulting from
non-disjunction during meiosis.
Incidence-1 in 10,000-20,000 live births.
More than 80% die within the first year of life.
Anomalities can be seen:
 Intellectual disability.
 Microcephaly.
 Cleft palate
 Low-set ears.
 Ventricular septate defect.
 Polydactyly.

10. EDWARD’S SYNDROME
 An additional chromosome 18 resulting from non-disjunction
during meiosis.
 INCIDENCE=1 in 6000-8000 live births.
 Majority of foetus-with this syndrome die before but >90% dead
in 1st year.
 80% affected were females.
Anomalties can be seen in:
 Intellectual disability.
 Microcephaly.
 Cleft lip,Cleft palate.
 Growth deficiencies.
 Absent radius.
 Kidney malformation.
 Micrognathia.
 Atrial septal defect.

12. DOWN’S SYNDROME
An additional chromosome 21 resulting from nondisjunction during
meiosis(extra chromsome 21 in every cell of the body)
John Langdon Down(The British physician) who described the syndrome
in 1886.
Karyotype=47,XX +21 or 47,XY +21
Anomalies can be seen in:-
 Short stature.
 Mental impairment.
 Umblical hernia.
 Flat head.
 Large tongue.
 Abnormal outer ears.

13. TURNER SYNDROME
 Sex chromosome monosomy(45,XO)
 INCIDENCE=1 n 2000-5000
Anomalies can be seen in:-
 Skeletal disorders(osteoporosis)
 Webbed neck.
 Broad shoulders.
 Amenorrhoea.
 Thyroid problems.
 Cubitus valgus.
 Shortened metacarpal IV

14. KLINEFELTER’S SYNDROME
Two or more X chromosome..
Due to non-disjunction of X-chromosome
during meiosis.
47,44XXY (male)syndrome.
INCIDENCE=1 in 500 live male births.
Anomalies can be seen in:-
 Broader hips.
 Little body hair.
 Tall stature.
 IQ is normal.

15. DUCHENNE MUSCLAR DYSTROPHY
Form of muscular dystrophy (muscle
weakness and loss of muscle
tissues)which worsens quickly
Caused by a defective gene for
Dystrophin(A type of protein in muscles).
Incidence=1 in 3,600 male infants.
Anomalies can be seen in:-
 Muscle weakness.
 Learning difficulties.(IQ can be below 75)
 Breathing difficulties.
 Heart disease usually starts by age 20.
 Intellectal difficulties.