(Q93.3) Deletion of short arm of chromosome 4

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17 019 in individuals diagnosis deletion of short arm of chromosome 4 confirmed

4 165 deaths with diagnosis deletion of short arm of chromosome 4

25% mortality rate associated with the disease deletion of short arm of chromosome 4

Etiology Pathogenesis Clinical Pattern Diagnostics Treatment Prevention

Diagnosis deletion of short arm of chromosome 4 is diagnosed Men are 7.64% more likely than Women

9 160

Men receive the diagnosis deletion of short arm of chromosome 4

1 770 (19.3 %)

Died from this diagnosis.

100

7 859

Women receive the diagnosis deletion of short arm of chromosome 4

2 395 (30.5 %)

Died from this diagnosis.

Risk Group for the Disease deletion of short arm of chromosome 4 - 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 deletion of short arm of chromosome 4

Absence or low individual and public risk

Deletion of short arm of chromosome 4 - what does this mean

Deletion of the short arm of chromosome 4 is a chromosomal disorder caused by the loss of genetic material from the p-arm of chromosome 4. this can occur due to a variety of genetic mechanisms, such as non-disjunction during meiosis or deletions caused by chromosomal breakage.

What happens during the disease - deletion of short arm of chromosome 4

Deletion of the short arm of chromosome 4 is a rare genetic disorder caused by the deletion of a large section of genetic material from the short arm of chromosome 4. this deletion can be caused by a variety of genetic mutations, including translocations, inversions, and deletions. the deletion can cause a wide range of symptoms, including developmental delays, intellectual disability, facial abnormalities, and physical deformities. it can also lead to an increased risk of certain types of cancer.

Clinical Pattern

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How does a doctor diagnose

Complete physical examination
Focused history taking
Laboratory tests such as complete blood count, electrolyte levels and liver function tests
Imaging studies such as X-rays, CT scans, MRI scans
Genetic testing for chromosomal deletion
Chromosome analysis
Fluorescence in situ hybridization (FISH) test
DNA microarray analysis

Treatment and Medical Assistance

Main Goal: Treat the Disease of Deletion of Short Arm of Chromosome 4

Genetic counseling
Genetic testing
Physical and occupational therapy
Speech therapy
Behavioral therapy
Medication management
Nutritional counseling
Surgery

27 Days of Hospitalization Required

Average Time for Outpatient Care Not Established

Deletion of short arm of chromosome 4 - Prevention

The prevention of deletion of the short arm of chromosome 4 is largely focused on prenatal screening and genetic counseling. through these services, couples can be made aware of their risk of having a child with this condition and can take the necessary steps to ensure that a healthy baby is born.

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