CHROMOSOMAL DISORDERS – geeksforjobs

 

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Down syndrome

introduction

Causes of chromosomal disorders

A) absence of one or more chromosomes

B) Excess of one or more chromosomes

Adding or removing one or more chromosomes from the original set of chromosomes is called as. Organisms showing this condition are called aeuploids or tetraploids.

1.Nondisjunction

2. Monosomy (2N – 1)

3.Tromy (2N + 1)

4.Tratomy (2N + 2)

5. Nullisomy (2N – 2)

C) abnormal arrangement of chromosomes

Some CHROMOSOMAL DISORDERS

Down syndrome or Mongolian or Mongolian idiom

  1. First reported by Langdon Down
  2. The reason for this was first told by Lejeune
  3. Symptoms Mongolian eyelid fold, a broad forehead, round face, mouth permanently open, approximating lower lip, tongue, short neck, flattened nose bridge, flat hands and stubby fingers
  4. The reason for this is autosomal aeuploidy – no. 2 chromosome excess
  5. The result is trisomy of chromosome 21
  6. Another name: 21- trisomy
  7. Women above the age of forty are likely to have such children.

Rare down syndrome or familial down syndrome

Arises due to the transfer of a large segment of whole or third 21St. Chromosomes in another chromosome, usually 14.

Klinefelter’s syndrome

  1. This is due to the association of nondisjunction XX Egg and a common Y type of sperm to form the result of the XXY genotype.
  2. A person is a sterile male
  3. Symptoms are breast and other female symptoms, short testes, long legs, obesity, body hair loss, mental disability
  4. Occurs once in 2000 births

Turner’s syndrome

  1. The reason for this is sex chromosome aneuploidy called monosomy where a chromosome is absent.
  2. The result is XO genotype
  3. A man is a sterile woman
  4. Symptoms are underdeveloped breasts, height is low, neck muscles and narrow hips, male skin like loose skin.
  5. Usually common sense

Alkaptonuria

  1. The cause is an autosomal gene mutation
  2. The result is that the enzyme homogentisat oxidase is inactivated.
  3. Symptoms: Urine turns black when exposed to air, cartilage becomes darker.

phenylketonuria

  1. The cause is an autosomal gene mutation
  2. The result is that the enzyme phenylalanine hydroxylase is inactivated.
  3. Symptoms have a high degree of mental retardation

albinism

  1. The cause is an autosomal gene mutation
  2. The result is that tyrosinase becomes inactive.
  3. The symptom is the absence of a dark pigment called melanin in the skin, hair and iris.

sickle cell Anaemia

  1. The cause is an autosomal gene mutation
  2. The result is the formation of sickle-shaped red blood cells due to the formation of hemoglobin S.
  3. Symptoms are jaundice, breakdown of red blood cells and sickle-shaped, inhibiting oxygen supply to cells.

Huntington’s disease

  1. The cause is an autosomal gene mutation
  2. The result is the formation of inhibitors in brain metabolism
  3. Symptoms are that the brain cells gradually degenerate during middle age.

Cystic fibrosis

  1. The reason is an autosomal mutation
  2. The result is a failure of chloride ion mechanism
  3. Symptoms are mucus congestion in the lungs and abnormalities in the liver and pancreas.

The conclusion

There are many chromosomal diseases and they are mainly due to heterosexuality or abnormality in chromosomes.


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