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(Q91.6) Trisomy 13, translocation
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18 991 in individuals diagnosis trisomy 13, translocation confirmed
16 570 deaths with diagnosis trisomy 13, translocation
87% mortality rate associated with the disease trisomy 13, translocation
Diagnosis trisomy 13, translocation is diagnosed Women are 31.50% more likely than Men
6 504
Men receive the diagnosis trisomy 13, translocation
7 576 (116.5 %)Died from this diagnosis.
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12 487
Women receive the diagnosis trisomy 13, translocation
8 994 (72.0 %)Died from this diagnosis.
Risk Group for the Disease trisomy 13, translocation - 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, translocation
Absence or low individual and public risk
Trisomy 13, translocation - what does this mean
Trisomy 13, translocation is a chromosomal disorder caused by the presence of three copies of chromosome 13 in the cells, instead of the usual two copies. it is caused by the rearrangement of genetic material between chromosome 13 and another chromosome, resulting in an extra copy of chromosome 13 in some or all of the cells. this genetic disorder can cause a variety of physical and mental disabilities, including heart defects, intellectual disability, and vision and hearing problems.
What happens during the disease - trisomy 13, translocation
Trisomy 13, translocation is a chromosomal disorder caused by the presence of an extra chromosome 13 in some or all of the cells in the body. this extra chromosome is due to a rearrangement of the genetic material from two different chromosomes, resulting in the presence of three copies of chromosome 13 instead of the usual two. this extra genetic material can cause a wide range of physical and mental disabilities, including severe intellectual disability, seizures, heart defects, and cleft lip or palate.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical exam
- Karyotyping
- Chromosomal microarray analysis
- Fluorescent in situ hybridization (FISH)
- Ultrasound
- Echocardiogram
- MRI
- CT scan
- Blood tests
- Genetic counseling
Treatment and Medical Assistance
Main Goal: To provide medical treatment and management of the symptoms of Trisomy 13, translocation.
- Provide supportive care to manage symptoms
- Monitor and manage any breathing difficulties
- Monitor and manage any feeding difficulties
- Monitor and manage any seizures
- Provide physical therapy to help with movement
- Monitor and manage any hearing or vision problems
- Monitor and manage any heart defects
- Provide psychological support for the family
- Provide genetic counseling
33 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Trisomy 13, translocation - Prevention
The best way to prevent trisomy 13, translocation is to seek genetic counseling before and during pregnancy. this counseling can help identify any potential risk factors and provide information about the options available to reduce the risk of having a child with this condition. additionally, prenatal testing can be used to detect the condition in the fetus.