Table of Contents
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.