Chromosome examination is to check whether there is any abnormality in the number or structure of sex chromosomes. The standard value for men is 46, XY; for women, it is 46, XX. The key method is various sex chromosome banding analysis. Go to a reliable hospital for an outpatient check-up, the doctor can help you find out, and most doctors will explain it to you in detail. 1How to actually check sex chromosomes For peripheral blood chromosomes, the general process is: draw blood from a vein on an empty stomach in the morning - anticoagulate with heparin - shape peripheral blood reticulocytes (37 degrees Celsius, 72 hours) - obtain somatic cells by low osmosis method, fix with fixative to make somatic cell suspension - produce, G banding technique or R banding or C banding - observe and analyze manually under a microscope (select 20 to 50 late cell division phases with good dispersion) - report the results, take photos under the microscope, analyze on a computer and convert into a text report - review and sign the report. 2. Check the clinical manifestations of chromosomes 1. Abnormal number and shape of chromosomes (1) X chromosome deletion Turner syndrome: 45, there are 45 X chromosomes, but only 1 X chromosome. The gas appearance is female, but the sex hormones are underdeveloped, and the growth and development of secondary sexual characteristics are delayed or underdeveloped. The body is short, the ears are deformed, the palate is high, the jaw is small, the hairline is low, the neck is short, there is a webbed neck, the chest is shield-shaped, the breast distance is wide, the elbows are valgus, and the IQ may be slightly defective. Other cases of Turner syndrome include 45, X/46, XX mosaicism, lack of the long arm of the X chromosome, lack of the short arm of the X chromosome, lack of both the long and short arms of the X chromosome, ring X chromosomes, isochromosomes with the long arm of the X chromosome, and translocation of the X chromosome with an autosome. (2) Excessive X chromosomes 47, XXX 48, XXXX 49, XXXXX and their chimeras with normal chromosomes. Gas table is more common in women, some have hormonal dysplasia, and some have no obvious abnormalities and have fertility. (3) Excess Y chromosomes and abnormal Klinefelter syndrome; 47,XXY patients are mostly males, most of whom are sturdy, with small and hard male testicles, and most of them have growth and development, a female body shape, sparse body hair, longer arms and legs, and may have a slow IQ. 47. XYY karyotype is relatively rare. Patients are mostly men. Most of them are tall and strong, harassed, have low IQ, may have mental illness and delinquent behavior, and a very small number of people do not show any abnormal clinical manifestations. (4) Hermaphroditism Patients with true hermaphroditism have male testicles and uterine and ovarian tissue. Their body shape, secondary sexual characteristics and reproductive organs are similar to those of both women and men. Their chromosome karyotype is mostly 46, XX, and very rarely it can be 46, XY or a mosaic of 46, XX/46, XY, 45, X/46, XY, etc. Patients with virilization syndrome have normal female appearance but have XY chromosomes and male testicular tissue. In patients with XY dysgenesis, sex hormones and secondary sex characteristics are often dysgenetic, as in Turner syndrome. |
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