What Chromosome Tests Can Be Done for a Child's Illness?
Disease description:
After the child was born, he or she seemed to have some kind of illness, and I would like to have the chromosomes checked. Therefore, what chromosome tests can be done to determine the child's condition?
Doctor's answer (1)
Dr. Zhou Xiaofeng
After a child becomes ill, chromosome analysis can provide in-depth understanding of their genetic information. The main types of chromosome testing include:
1. Chromosome number abnormality detection: This checks for an increased or decreased number of chromosomes. For example, common trisomy 21 (Down syndrome), in which there is an extra copy of chromosome 21.
2. Chromosome structure abnormality detection: This examines whether structural abnormalities exist in the chromosomes, such as deletions, duplications, inversions, and translocations, which may lead to various genetic disorders.
3. Sex chromosome abnormality detection: This specifically examines the sex chromosomes (X and Y) to identify genetic issues related to them, such as Turner syndrome (females missing one X chromosome) and Klinefelter syndrome (males having an extra X chromosome).
4. Genetic disease carrier screening: This checks whether the child carries gene mutations for certain inherited diseases, providing a basis for genetic counseling and reproductive guidance.
