MUTATION and some GENETIC DISORDERS.pptx

mutation disorders

1. Deletion A part of a chromosome is lost.

2. Cri du chat The deletion occurs in the short arm of chromosome 5 . Infants with this condition often have a high- pitched cry that sounds like that of a cat . Affected individuals also have distinctive facial features, including widely set eyes, low- set ears, a small jaw, and a rounded face. Some children with cri- du-chat syndrome are born with a heart defect.

3. Inversion A part of a chromosome flipped end to end

4. Four- ring syndrome Part of the fourth pair of chromosomes is flipped . In some infants and children, this may be associated with intellectual disability and delays in the development of physical, mental, and behavioral skills that are typically acquired at particular stages. May cause cleft palate, club feet, short life span, and testes don’t descend .

5. Duplication There is an extra copy of a part of chromosome

6. Charcot- Marie- Tooth (CMT) disease is marked by high arched and claw feet , therefore confining the patient to a wheelchair. is an inherited neurological condition that causes problems with the muscles of your feet, legs, arms and hands. duplication of gene in chromosome 17 .

7. Translocation Part of one chromosome is transferred to another chromosome

8. Leukemia A very serious disease in which the body forms too many white blood cells. The broken end of chromosome 9 fuses with the broken end of chromosome 22 . A cancer of the blood or bone marrow, which produces blood cells. Occurs due to a problem with blood cell production.