(Q90.1) Trisomy 21, mosaicism (mitotic nondisjunction)

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150 326 in individuals diagnosis trisomy 21, mosaicism (mitotic nondisjunction) confirmed
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60 678 deaths with diagnosis trisomy 21, mosaicism (mitotic nondisjunction)
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40% mortality rate associated with the disease trisomy 21, mosaicism (mitotic nondisjunction)

Diagnosis trisomy 21, mosaicism (mitotic nondisjunction) is diagnosed Women are 25.10% more likely than Men

56 299

Men receive the diagnosis trisomy 21, mosaicism (mitotic nondisjunction)

30 084 (53.4 %)

Died from this diagnosis.

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94 027

Women receive the diagnosis trisomy 21, mosaicism (mitotic nondisjunction)

30 594 (32.5 %)

Died from this diagnosis.

Risk Group for the Disease trisomy 21, mosaicism (mitotic nondisjunction) - Men aged 0 and Women aged 35-39

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In Men diagnosis is most often set at age 0-24, 30-39, 45-69
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Less common in men the disease occurs at Age 25-29, 40-44, 70-95+Less common in women the disease occurs at Age 65-69, 75-95+
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In Women diagnosis is most often set at age 0-64, 70-74

Disease Features trisomy 21, mosaicism (mitotic nondisjunction)

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Absence or low individual and public risk
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Trisomy 21, mosaicism (mitotic nondisjunction) - what does this mean

Trisomy 21, mosaicism (mitotic nondisjunction) is a genetic disorder caused by an extra copy of chromosome 21. it occurs when a cell divides improperly during the formation of egg or sperm cells, resulting in an embryo with three copies of chromosome 21 instead of the normal two. this can also happen after conception, resulting in some cells having two copies of chromosome 21 while other cells have three copies.

What happens during the disease - trisomy 21, mosaicism (mitotic nondisjunction)

Trisomy 21, mosaicism (mitotic nondisjunction) is a genetic disorder caused by the presence of an extra copy of chromosome 21 in some or all of the cells in the body. this extra copy is caused by a random error in cell division known as mitotic nondisjunction, which occurs when a pair of chromosomes fails to separate correctly during the formation of reproductive cells. this results in the formation of gametes with an abnormal number of chromosomes, which can then be passed on to offspring.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Physical examination
  • Ultrasound
  • Blood tests to measure hormones and chromosomes
  • Amniocentesis
  • Chorionic villus sampling (CVS)
  • Fluorescence in situ hybridization (FISH) test
  • Polymerase chain reaction (PCR) test

Treatment and Medical Assistance

Main goal of the treatment: To improve the quality of life of patients with Trisomy 21, mosaicism (mitotic nondisjunction).
  • Developing a treatment plan to manage physical and medical conditions
  • Providing physical therapy and occupational therapy
  • Providing speech and language therapy
  • Providing psychological counseling and support
  • Monitoring growth and development
  • Educating patients and families about the condition
  • Providing nutritional guidance
  • Providing genetic counseling
  • Providing social and emotional support
  • Encouraging participation in activities and programs tailored to the patient's needs
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24 Days of Hospitalization Required
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25 Hours Required for Outpatient Treatment

Trisomy 21, mosaicism (mitotic nondisjunction) - Prevention

The best way to prevent trisomy 21, mosaicism (mitotic nondisjunction) is to practice healthy prenatal care. this includes engaging in regular prenatal visits with a healthcare provider, eating a balanced diet, avoiding alcohol, tobacco and drugs, exercising regularly, and getting adequate rest. additionally, genetic counseling may be recommended to assess the risk of trisomy 21.