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(Q91.4) Trisomy 13, meiotic nondisjunction
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18 991 in individuals diagnosis trisomy 13, meiotic nondisjunction confirmed
16 570 deaths with diagnosis trisomy 13, meiotic nondisjunction
87% mortality rate associated with the disease trisomy 13, meiotic nondisjunction
Diagnosis trisomy 13, meiotic nondisjunction is diagnosed Women are 31.50% more likely than Men
6 504
Men receive the diagnosis trisomy 13, meiotic nondisjunction
7 576 (116.5 %)Died from this diagnosis.
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12 487
Women receive the diagnosis trisomy 13, meiotic nondisjunction
8 994 (72.0 %)Died from this diagnosis.
Risk Group for the Disease trisomy 13, meiotic nondisjunction - Men and Women aged 0
In Men diagnosis is most often set at age 0-14, 45-49
Less common in men the disease occurs at Age 15-44, 50-95+Less common in women the disease occurs at Age 10-24, 50-95+
In Women diagnosis is most often set at age 0-9, 25-49
Disease Features trisomy 13, meiotic nondisjunction
Absence or low individual and public risk
Trisomy 13, meiotic nondisjunction - what does this mean
Trisomy 13, or patau syndrome, is a rare chromosomal disorder caused by meiotic nondisjunction, which is a type of genetic error that occurs during the formation of reproductive cells. this error results in an individual having an extra copy of chromosome 13, resulting in an additional genetic material which can lead to a variety of physical and mental disabilities.
What happens during the disease - trisomy 13, meiotic nondisjunction
Trisomy 13 is a genetic disorder caused by the presence of an extra copy of chromosome 13. this extra chromosome is usually caused by a meiotic nondisjunction event, in which the chromosomes fail to separate properly during the formation of reproductive cells. this results in an egg or sperm containing an extra copy of chromosome 13, which is then passed on to the fetus. the presence of the extra chromosome disrupts normal development and can lead to a wide range of physical and developmental abnormalities.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Genetic counseling
- Karyotyping
- Chromosome analysis
- Fluorescent in situ hybridization (FISH) testing
- Ultrasound imaging
- Amniocentesis
- Chorionic villus sampling (CVS)
- Maternal blood screening
- Prenatal testing
Treatment and Medical Assistance
Main goal: Treating the symptoms of Trisomy 13, meiotic nondisjunction.
- Regular monitoring of vital signs such as heart rate, breathing, and blood pressure.
- Monitoring of oxygen levels.
- Medication to manage seizures.
- Surgery to correct any physical abnormalities.
- Physical therapy to help with motor skills development.
- Occupational therapy to help with daily activities.
- Speech therapy to help with communication.
- Nutritional support.
- Counseling and support for the family.
33 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Trisomy 13, meiotic nondisjunction - Prevention
The best way to prevent trisomy 13, meiotic nondisjunction is to seek genetic counseling prior to pregnancy. genetic counselors can provide advice on family history and the potential risks associated with having a child with trisomy 13. genetic testing can also be done to determine if a couple is at risk for having a child with trisomy 13. additionally, couples should discuss any potential risks with their healthcare provider and make informed decisions about their reproductive choices.