What can a chromosome test detect?
Disease description:
I have been married for one and a half years and have not used contraception, yet I haven't become pregnant. My mother-in-law is unhappy about this. My doctor prescribed several tests, including a chromosome analysis. I would like to ask what can be detected through chromosome testing?
Doctor's answer (1)
Dr. Zhao Xiaodong
Chromosome analysis is mainly used to diagnose genetic disorders and congenital abnormalities related to chromosomes. Specifically, chromosome testing can:
1. Detect abnormalities in chromosome number: such as trisomy 21 (Down syndrome), in which patients have an extra copy of chromosome 21.
2. Identify structural abnormalities in chromosomes: including deletions, duplications, inversions, or translocations of chromosomal segments, which may lead to genetic disorders such as cri du chat syndrome.
3. Screen for sex chromosome abnormalities: such as Turner syndrome in females (missing one X chromosome) and Klinefelter syndrome in males (an extra X chromosome), which can affect an individual's reproductive and developmental functions.
4. Screen for genetic disease carriers: by detecting specific gene mutations on chromosomes, determine whether an individual is a carrier of a genetic disorder.
5. Chromosome analysis of tumor cells: in the field of oncology, chromosome testing helps analyze chromosomal characteristics of tumor cells, guiding diagnosis and treatment of cancers.
