Question

My son was diagnosed with a chromosomal abnormality two days after birth. Although he can drink milk and cry when hungry, he doesn’t seem to have any abnormalities. However, the doctor said that symptoms may become apparent as he grows older, and we need to pay more attention.

Answer

Chromosomal disorders are a type of chromosomal genetic disorder. They are primarily caused by abnormalities in the number, shape, or structure of chromosomes, which are the main carriers of genetic material within cells. These disorders are usually categorized into two main types: autosomal disorders and sex chromosome disorders. Autosomal disorders are caused by abnormalities in autosomes and may present with congenital intellectual disability, developmental delays, and multiple malformations. Sex chromosome disorders are caused by abnormalities in sex chromosomes and may manifest as incomplete sexual development, intellectual disability, and multiple malformations.