(Q93) Monosomies and deletions from the autosomes, not elsewhere classified

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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

Etiology Pathogenesis Clinical Pattern Diagnostics Treatment Prevention

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

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.

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