Patient's question:
My son was diagnosed with a chromosomal abnormality two days after birth. He can drink milk and will cry when hungry, and he doesn't seem to have any other abnormalities. But the doctor said the condition will become more apparent as he gets older and asked us to pay attention.Doctor's answer:
Chromosome diseases are a shortened term for chromosomal genetic diseases. They are primarily caused by abnormalities in the number or morphology and structure of chromosomes, which are the main carriers of genetic material in cells. They are usually divided into two major categories: autosomal diseases and sex chromosome diseases. Autosomal diseases are caused by abnormalities in autosomes and are characterized by clinical manifestations such as congenital intellectual disability, developmental delay, and multiple malformations. Sex chromosome diseases are caused by abnormalities in sex chromosomes and are characterized by clinical manifestations such as sexual development disorders, intellectual disability, and multiple malformations.