How to interpret chromosome test report

Karyotype analysis, also often called chromosome examination, is a genetic examination used to detect chromosome diseases. Our karyotype report is accompanied by a complete karyotype image and description. The most important thing for you is to know the results of the column "Chromosome Karyotype". Although we will write a simple karyotype description in the karyotype report to show whether your karyotype is normal or not. However, many people still don't understand these simple descriptions. People often go to the clinic with reports, just to confirm whether their reports are normal. Therefore, how to read the karyotype analysis report is explained in detail below. \x0d\ The picture above is a sample of our chromosome karyotype report. The information area is at the top. Please check whether the name, gender and other information are wrong. If you find any information errors, please contact us in time. In the middle is a complete chromosome karyotype. For a chromosome report, the most important thing is the conclusion of chromosome karyotype. For the convenience of understanding, we roughly divide the karyotype results into three types. \x0d\ 1, normal karyotype \x0d\ normal male karyotype: 46, XY\x0d\ normal female karyotype: 46, XX\x0d\ If your chromosome report shows the above two karyotypes, and your sex is consistent with your karyotype, then your chromosome is completely normal. \x0d\2. Chromosome variation (chromosome polymorphism) \x0d\ Chromosome variation is also often called chromosome polymorphism. The total frequency of chromosome variation in the population is about 10%- 15%. Although chromosome variation seems to be different from normal karyotype, it has no practical clinical significance. Therefore, chromosome variation can be regarded as a normal chromosome, which is harmless to personal health and will not affect the birth of offspring. \x0d\ Chromosome variation can be divided into many kinds, and the common ones are heterochromatin length and position variation, satellite and satellite stalk variation. The reports you may see are often like this: \ x0d \ 46, xy, 9qh+\ x0d \ 46, xx, 2 1pstk+\ x0d \ 46, xy, inv (9) (p1q The easiest way to know whether one's chromosome belongs to a variant chromosome is to look at the judgment of "chromosome polymorphism" on our report results. If your karyotype is "polymorphic", then you can rest assured because it is equivalent to a normal chromosome. \x0d\ If you want to know more about chromosome variation (chromosome polymorphism), you can read our special topic on chromosome variation in depth. \x0d\3. Chromosome karyotype abnormality \x0d\ Generally speaking, except for the above two cases, other types of chromosome karyotypes are somewhat abnormal. Usually, the abnormal karyotypes you may see are as follows: \ x0d \ 47, xx, +2 1 \ x0d \ 46, xy, t (1; 5)(q32； p 13)\x0d\46，XY，inv (2) (p2 1q23)\x0d\45，XX，der( 13； 2 1)(q 10； Q 10)\x0d\ Of course, there are many forms of chromosome abnormality. Similarly, the easiest way to know whether your chromosome is abnormal is to see if there is a description of "karyotype abnormality" in the description of the results. \x0d\ If your chromosome is abnormal, it is recommended to visit our genetic counseling clinic. If you want to know more about chromosome abnormality, you can read our special topic on chromosome abnormality. Some common abnormal karyotypes can be understood through the following links. \x0d\47, XY, +2 1 (Down syndrome) \x0d\47, XXY (Creutzfeldt-Jakob syndrome, Creutzfeldt-Jakob syndrome) \x0d\45, x (Turner syndrome) \x0d\47, XXX\x0d\ Finally. Many people don't understand the last sentence of the chromosome report: it doesn't rule out that the chromosome structure changes little and the abnormal mosaic ratio is low. What does this mean? So is my chromosome normal or not? \x0d\ Simply put, this is an "official description", not that your chromosome is abnormal, but that your karyotype analysis is limited. Karyotype analysis can only detect chromosome number abnormality and large fragment structure, but can't detect microstructure abnormality. Karyotype analysis with low proportion of chimeric chromosomes may also miss detection. So this sentence has no practical impact on your report.