CHROMOSOMAL DISORDERS
Made by Diego, Angel, Sergio y Dani
Index
Deletions
Duplication
Translocation
Inversions
CHROMOSOMAL DISORDERS
Are changes in the structure of chromosome that can lead to anomalies or illnesses. They are identified when studying the karyotye of an individual
Deletions
- Deletions refer to the loss of a chromosomal fragment. The effects on the individual vary according to the size of the lost fragment, as well as the genetic information that it contained
Deletions most well known syndromes
- Cri Dru chat syndrome or Lejeune
- It is caused by a missing fragment in chromosome number 5. Individuals with this syndrome have microcephaly . Their jaws are small and they have flat faces, apart from kidney problems and low muscle tone
- Distal 18q- syndrome ( previously known as De Grouchy syndrome)
- It is caused by a missing fragment in chromosome number 18. Individuals that have this condition, have a deformation in the mouth, apart from a small skull, growth problems and an intellectual disability because their brains are underdevelopd
Duplications
Are cases were a fragment of chromosome is repeated (duplicated) . The excess of genetic information leads to illnesses that can be more or lesss severe depending how important the information is.
Pallister-Killian syndrome
This syndrome is caused by the duplication of a fragment of chromosome number 12. Individuals who suffer from this condition have an intellectual and psychomotor disability changes in skin colour and characteristic.
INVERSIONS
This occurs when a chromosomal fragment is inverted.In most of the cases it isnt lead to a healthy problem.
Ambras syndrome
It is caused by the inversion of chromosome 8. Individuals affected by this syndrome have very thick hair covering their entire body,which continues to grow throughout their entire life. This is this syndrome is also commonly known as werewolf syndrome
Translocations
They are changes in chromosomal structures due to the exchange of fragments between chromosomes.Sometimes parts of the genetic information can get lost, in wich case the consequences are more severe.
Chronic myelogenous leukemia
Is an example of a disorder caused by translocation. It is characterised by the accumulation, in the bone marrow and blood, of a large amount of myeloid cells (a special type of white blood cell).
THANK YOU
CHROMOSOMAL DISORDERS
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Created on February 16, 2023
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Transcript
CHROMOSOMAL DISORDERS
Made by Diego, Angel, Sergio y Dani
Index
Deletions
Duplication
Translocation
Inversions
CHROMOSOMAL DISORDERS
Are changes in the structure of chromosome that can lead to anomalies or illnesses. They are identified when studying the karyotye of an individual
Deletions
Deletions most well known syndromes
Duplications
Are cases were a fragment of chromosome is repeated (duplicated) . The excess of genetic information leads to illnesses that can be more or lesss severe depending how important the information is.
Pallister-Killian syndrome
This syndrome is caused by the duplication of a fragment of chromosome number 12. Individuals who suffer from this condition have an intellectual and psychomotor disability changes in skin colour and characteristic.
INVERSIONS
This occurs when a chromosomal fragment is inverted.In most of the cases it isnt lead to a healthy problem.
Ambras syndrome
It is caused by the inversion of chromosome 8. Individuals affected by this syndrome have very thick hair covering their entire body,which continues to grow throughout their entire life. This is this syndrome is also commonly known as werewolf syndrome
Translocations
They are changes in chromosomal structures due to the exchange of fragments between chromosomes.Sometimes parts of the genetic information can get lost, in wich case the consequences are more severe.
Chronic myelogenous leukemia
Is an example of a disorder caused by translocation. It is characterised by the accumulation, in the bone marrow and blood, of a large amount of myeloid cells (a special type of white blood cell).
THANK YOU