Examples of Chromosomal Aberration

Aneuploidy:

Trisomy 21 (Down syndrome): 

An extra copy of chromosome 21 results in intellectual disability and physical abnormalities such as a flattened facial profile and small ears.

Turner syndrome: 

A missing X chromosome in females results in short stature, webbed neck, and a lack of sexual development.

Klinefelter syndrome: 

An extra X chromosome in males results in tall stature, breast development, and reduced fertility.

Polyploidy:

Triploidy: 

The presence of three sets of chromosomes in a cell results in miscarriage or stillbirth.

Tetraploidy: 

The presence of four sets of chromosomes in a cell results in developmental abnormalities and intellectual disability.

Structural Aberration:

Deletions:

 A deletion in the DiGeorge syndrome critical region on chromosome 22 results in a wide range of developmental abnormalities, including heart defects and immune system deficiencies.

Duplications: 

A duplication in the Williams-Beuren syndrome critical region on chromosome 7 results in a distinctive facial appearance, intellectual disability, and cardiovascular abnormalities.

Inversions: 

An inversion in the Philadelphia chromosome results in a fusion of the BCR and ABL genes, leading to chronic myeloid leukemia.

Translocations: 

A translocation between the short arms of chromosomes 9 and 22 results in the Philadelphia chromosome and chronic myeloid leukemia.



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