Good Humour Hypothesis and Overview of Chromosomal 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.