DocSym
β
Searchsearch
Search
(Q93) Monosomies and deletions from the autosomes, not elsewhere classified
More details coming soon
17 019 in individuals diagnosis monosomies and deletions from the autosomes, not elsewhere classified confirmed
4 165 deaths with diagnosis monosomies and deletions from the autosomes, not elsewhere classified
25% mortality rate associated with the disease monosomies and deletions from the autosomes, not elsewhere classified
Diagnosis monosomies and deletions from the autosomes, not elsewhere classified is diagnosed Men are 7.64% more likely than Women
9 160
Men receive the diagnosis monosomies and deletions from the autosomes, not elsewhere classified
1 770 (19.3 %)Died from this diagnosis.
100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
0
7 859
Women receive the diagnosis monosomies and deletions from the autosomes, not elsewhere classified
2 395 (30.5 %)Died from this diagnosis.
Risk Group for the Disease monosomies and deletions from the autosomes, not elsewhere classified - Men and Women aged 0-5
In Men diagnosis is most often set at age 0-24
Less common in men the disease occurs at Age 25-95+Less common in women the disease occurs at Age 30-34, 40-95+
In Women diagnosis is most often set at age 0-29, 35-39
Disease Features monosomies and deletions from the autosomes, not elsewhere classified
Absence or low individual and public risk
Monosomies and deletions from the autosomes, not elsewhere classified - what does this mean
Monosomies and deletions from the autosomes, not elsewhere classified, are genetic disorders caused by the loss of a chromosome or part of a chromosome in the autosomal region of the genome. this can occur due to a number of different mechanisms, such as nondisjunction, unbalanced translocations, or deletions. the resulting genetic imbalance can lead to a variety of medical issues, including developmental delays, intellectual disability, physical abnormalities, and other health problems.
What happens during the disease - monosomies and deletions from the autosomes, not elsewhere classified
Monosomies and deletions from the autosomes, not elsewhere classified, is a genetic disorder caused by a missing or extra chromosome. this can occur as a result of an error in meiosis, where a parent's gamete has an incorrect number of chromosomes, or through a mutation in the egg or sperm before fertilization. these errors can lead to a variety of physical and developmental abnormalities, depending on the number and type of chromosomes affected.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Genetic testing
- Chromosomal analysis
- Cytogenetic analysis
- Fluorescent in situ hybridization (FISH)
- Array comparative genomic hybridization (aCGH)
- Next-generation sequencing (NGS)
Treatment and Medical Assistance
Main goal of the treatment: To reduce the effects of monosomies and deletions from the autosomes, not elsewhere classified.
- Monitoring of physical and mental development of the patient.
- Provide genetic counseling to the patient and family.
- Provide educational and psychosocial support.
- Provide appropriate medical and surgical treatments.
- Provide occupational therapy.
- Provide speech and language therapy.
- Provide physical therapy.
- Provide nutritional support.
- Provide behavioral interventions.
- Provide appropriate medications.
- Provide genetic testing.
- Provide follow-up care.
27 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Monosomies and deletions from the autosomes, not elsewhere classified - Prevention
The prevention of monosomies and deletions from the autosomes, not elsewhere classified, can be achieved through early prenatal screening and genetic counselling. parents should be made aware of the risks and the available screening tests, so that they can make an informed decision about the pregnancy and the potential risks.