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chromosome Abnormality-Chromosome Abnormality

chromosome Abnormality-Chromosome Abnormality
Chromosome abnormality visit compass to chromosome abnormality patients often appear to answer questions when they go to hospital, for example, what department number is chromosome abnormality hanging? Precautions before chromosome abnormality examination? What do doctors usually ask? What tests should chromosome abnormalities do? What do you think of the results of chromosome abnormality examination? Wait. Chromosome abnormality treatment guide aims to facilitate patients with chromosome abnormality to seek medical treatment and solve the doubts of patients with chromosome abnormality.
Typical symptom
Tongue extension dementia, single fold of little finger, cortical amnesia
Suggested visiting department
Reproductive health
Best visit time
No special, see a doctor as soon as possible
Duration of visit
One day is reserved for the first visit, and half a day is reserved for the second visit
Frequency of follow-up visit/diagnosis and treatment cycle
Outpatient treatment: Follow-up every week until the development recovers, and follow-up is uncomfortable. Severe cases need to be hospitalized for normal mental health and then transferred to outpatient treatment.
Preparation before seeing a doctor
No special requirements, pay attention to rest.
Common consultation contents
1. Describe the reason for seeing a doctor (when did you start and what's wrong?)
2. Is the feeling of discomfort caused by obvious factors?
3. Have accompanying symptoms such as developmental retardation?
4. Have you been to the hospital, have you done those examinations, and what are the examination results?
5. How is the treatment?
6. Is there any history of drug allergy?
7. Are there any patients with chromosomal abnormalities at home?
Key inspection items
STEP 1 Laboratory tests
1. Serological examination of Down syndrome showed that serotonin decreased, alkaline and phosphatase in leukocytes increased, glucose diphosphate and superoxide dismutase increased by 50% in erythrocytes, but it had nothing to do with abnormal development and mental retardation of patients. 2. About 1/3 mothers of children with Down syndrome have increased serum alpha-fetoprotein content, increased serum chorionic gonadotropin content and decreased estriol content during 4 ~ 6 months of pregnancy, which can indicate the examination results of fetal Down syndrome. Positive pregnant women should undergo amniotic sac puncture to detect amniotic fluid cells or chromosomes.
2. Other auxiliary examinations
Chromosome abnormality of amniotic fluid cells can be found by amniocentesis in pregnant women, and children with Down syndrome and other chromosome dysplasia can be screened early. Chromosome examination can be used to detect amniotic fluid cells or chromosomes by fluorescence in situ hybridizationtechnique. For example, Down syndrome can find that chromosome 21 is triploid.
Diagnostic criteria
According to the characteristic symptoms, signs and chromosome examination of children, chromosome abnormality can be diagnosed.


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