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(Q92.1) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
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6 330 in individuals diagnosis whole chromosome trisomy, mosaicism (mitotic nondisjunction) confirmed
3 107 deaths with diagnosis whole chromosome trisomy, mosaicism (mitotic nondisjunction)
49% mortality rate associated with the disease whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Diagnosis whole chromosome trisomy, mosaicism (mitotic nondisjunction) is diagnosed Women are 46.76% more likely than Men
1 685
Men receive the diagnosis whole chromosome trisomy, mosaicism (mitotic nondisjunction)
1 969 (116.9 %)Died from this diagnosis.
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Women receive the diagnosis whole chromosome trisomy, mosaicism (mitotic nondisjunction)
1 138 (24.5 %)Died from this diagnosis.
Risk Group for the Disease whole chromosome trisomy, mosaicism (mitotic nondisjunction) - Men and Women aged 0
In Men diagnosis is most often set at age 0-9
Less common in men the disease occurs at Age 10-95+Less common in women the disease occurs at Age 5-9, 20-24, 40-95+
In Women diagnosis is most often set at age 0-5, 10-19, 25-39
Disease Features whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Absence or low individual and public risk
Whole chromosome trisomy, mosaicism (mitotic nondisjunction) - what does this mean
Whole chromosome trisomy, mosaicism (mitotic nondisjunction) occurs when a cell has an extra chromosome due to a failure of the chromosomes to separate properly during cell division. this can lead to an abnormal number of chromosomes in some cells, while others have the normal number.
What happens during the disease - whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Whole chromosome trisomy, mosaicism (mitotic nondisjunction) is a genetic disorder caused by an abnormal cell division during the formation of the egg or sperm, resulting in an extra copy of a chromosome. this can cause a variety of physical and developmental problems, as the extra chromosome can affect the expression of genes. in some cases, only some of the cells in the body contain the extra chromosome, resulting in mosaicism. this is due to the fact that the abnormal cell division only occurred in some of the cells, resulting in a mixture of cells with the extra chromosome and cells with the normal number of chromosomes.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Genetic testing
- Karyotype analysis
- Fluorescent in situ hybridization (FISH) testing
- Array comparative genomic hybridization (CGH) testing
- Polymerase chain reaction (PCR) testing
- Sequencing
Treatment and Medical Assistance
Main goal of the treatment: To reduce the effects of whole chromosome trisomy and mosaicism (mitotic nondisjunction).
- Genetic counseling
- Regular monitoring of physical and mental development
- Medications to address associated symptoms
- Surgery to correct physical abnormalities
- Occupational, physical, and speech therapy
- Nutritional and dietary advice
- Psychological counseling for the patient and family
13 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Whole chromosome trisomy, mosaicism (mitotic nondisjunction) - Prevention
Whole chromosome trisomy, mosaicism (mitotic nondisjunction) prevention is mainly focused on avoiding risk factors that may increase the chances of this condition. these include avoiding smoking, alcohol, and drugs, eating a balanced diet, and controlling stress levels. additionally, genetic counseling and prenatal screening tests can help identify genetic abnormalities before birth.