How many autosomes:?

– 22 pair
How many sex chromosomes?
– 1 pair
Females:
– 46 XX
Males:
– 46 XY
Normal human karyotype is
– Diploid.

Sperm/ Eggs are

– Haploid (carry one copy of each
chromosome).

The sex of newborn is determined by

– Sperm
Duchene
muscular Peptic ulcer
dystrophy Diabetes mellitus Scurvy
Trauma
Hemophilia
Osteogenesis imperfecta

GENETIC ENVIRONMENTAL

Tuberculosis
Phenylketonuria
Galactosaemia Spina bifida
Ischemic heart disease
Ankylosing spondylitis
*HEREDITARY:
Transmitted in the germ line; passed from parents to their
offspring.

*FAMILIAL:
Diseases run in families and represent multifactorial
inheritance. Risk for first degree is 5-10% higher.

*CONGENITAL:
Born with; disease present since birth.
 BARR BODY
[ SEX CHROMATIN ]

Nucleus

Barr body

# of Barr bodies = # of X chromosomes - 1

Davidson Body
 LYON HYPOTHESIS:
[ 1961, Mary Lyon ]
1. Only one of the X - chromosomes is
genetically active,
2. Other X of either maternal or
paternal origin undergoes
heteropyknosis and is rendered
inactive.
LYON HYPOTHESIS:

3. Inactivation of either the maternal or

paternal X occurs at random among all
the cells of the blastocyst on or about
the 16th day of embryonic life.

4. Inactivation of the same X

chromosome persists in all the cells
derived from each precursor cell.
INCIDENCE:
• 1 in 800 live births [ overall ]
• Maternal age:
•< 20 yrs - 1 in 1550,
•> 45 yrs - 1 in 30
Flat face
Protruding tongue
Occiput tends to be flat
Low bridged nose
Oblique palpabral
fissure
Epicanthic folds
Slanting eyes
Brushfield spots in iris
Epicanthic fold:
Simian crease
 40%- Congenital cardiac defects
ASD, VSD, TOF, PDA.
10-20 fold risk to develop Acute leukemia's:
ALL/AML.
CNS:
Mental retardation, IQ -30.
Develop Alzheimer’s disease -
-- at very young age;
Intestine:
Imperforate anus, duodenal stenosis, Hirschsprung’s
disease.
Sterility:
Arrested spermatogenesis.
 Life expectancy:

Most common cause of death:

Congenital heart diseases and leukemia.
With normal heart, only 5% of children with
Down syndrome die before age 10.

After age 10, the estimated life expectancy

is 55 years.
Common cause of male hypogonadism
and infertility.
1 in 1000 live male births,
Presence of one or more extra X
chromosome, 47 XXY.
Rarely diagnosed before puberty,
Clinical features:
Eunuchoid body habitus:
– Long legs, tall and thin.
Small, atrophic testes, small penis.
Lack of secondary sexual characteristics,
Deep voice of high pitch.
Gynecomastia, feminine characters.
IQ - low; mental retardation, behavioral
abnormality.
Karyotype of KFS
 Turner Syndrome:
Most common sex chromosome
abnormality in females,
Monosomy X; the missing chromosome X
is usually of paternal origin.
Incidence: 1/8000 . Most die in infancy
Karyotype of Turner Syndrome:
 Clinical features of TS:

Edema of dorsum of hand & foot,

Bilateral neck webbing,
Congenital heart diseases, (COA)
Short stature, hyper convex finger nails.
Broad chest & widely spaced nipples,
Multiple Pigmented nevi,
Amenorrhea [ Primary ],
Infertility, streak ovaries.
Low posterior hair line.
Wide carrying angle (cubitus valgus).
Cystic hygroma of neck > webbed neck
Lymphedema
Streak ovaries
True Hermaphrodite:
( ovary + testis )

Pseudo Hermaphrodite:
( Disagreement between
phenotypic and
gonadal sex )
 Pseudo hermaphrodite

Female pseudo hermaphrodite:

* Ovaries,
* Male external genitalia,

Male pseudo hermaphrodite:

.. Testes,
.. Female external genitalia;
Genetic diseases:

MENDELIAN
DISORDERS:
[ MUTANT GENES WITH
LARGE EFFECT ]
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 Class I Loss of receptor synthesis
Class II Transport inside cell is impaired
Class III Failure of receptors to bind LDL
Class IV Fail to internalize after binding
Class V Internalized bodies are trapped in
endosomes

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 MUTATION IN ENZYME PROTEIN

PHENYLKETONURIA
GALACTOSEMIA
LYSOSOMAL STORAGE DISEASES
GLYCOGEN STORAGE DISEASES

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DISEASE ENZYME DEFICIENCY
Pompe’s Disease Lysosomal Glucosidase

Tay Sachs disease Hexosaminidase A

Gaucher disease Glucocerebrosidase

Niemann Pick disease Sphingomyelinase

Hurler disease L-Iduronidase

Hunter disease L-Iduronosulphate

sulphatase

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