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Karyogram and karyotype. Diagram of arrangement of chromosomes Chromosomes are paired according to size Arrangement is called karyogram Set of chromosomes is called a karyotype Human karyogram shows the 23 pairs of chromosomes Chromosome set 23 indicate the sex of the individual. Karyogram.

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karyogram and karyotype
Karyogram and karyotype
  • Diagram of arrangement of chromosomes
  • Chromosomes are paired according to size
  • Arrangement is called karyogram
  • Set of chromosomes is called a karyotype
  • Human karyogram shows the 23 pairs of chromosomes
  • Chromosome set 23 indicate the sex of the individual
karyogram
Karyogram

Normal Male

Normal Female

down syndrome
Down syndrome
  • Down's syndrome is caused by the presence of three copies of the 21st chromosome.
  • This chromosomal defect is known as Trisomy-21.
  • Down's syndrome almost always results in mental retardation, though the severity of the retardation varies.
characteristics of down syndrome

Epicanthic fold

Small, oblique eyes

Flattened, nasal bridge

Open mouth Protruding tongue Broad neck

Small underdeveloped ears set low on head

Characteristics of Down syndrome
slide5

Wide gap between first and second toe

Incurved finger

Single palmar (“simian”) crease

Short broad hands

assessment
Assessment
  • Identify on the karyogram if the individual is female or male?
  • Does this individual has an abnormal number of chromosomes?
  • Name the genetic disease that the individual suffer from.
assessment lo1
Assessment (LO1)

Use the table below and draw a graph to show the relation of maternal age to Down syndrome

slide8

Hutchinson-Gilford progeria syndrome

This isa rare condition of premature ageing that begins in childhood or early adult life and leads to death within a few years

albinism
Albinism

A person or animal whose melanocytes in the skin do not contain any melanin (pigment) is called an albino. This results in a characteristic appearance with snow-white hair, pink or blue eyes, and pinkish-white skin that is very sensitive to sunlight

slide10

Albinism is inherited

♂Carrier

A a

♀Carrier

A a

½ a

½ A

½ a

½ A

¼ aa

¼ aA

¼ AA

¼ Aa

carriers ½

albino

normal phenotype ¾