(Q96.1) Karyotype 46,x iso (xq)

More details coming soon

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65 421 in individuals diagnosis karyotype 46,x iso (xq) confirmed
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1 451 deaths with diagnosis karyotype 46,x iso (xq)
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2% mortality rate associated with the disease karyotype 46,x iso (xq)

Diagnosis karyotype 46,x iso (xq) is diagnosed Women are 98.79% more likely than Men

397

Men receive the diagnosis karyotype 46,x iso (xq)

0 (less than 0.1%)

Died from this diagnosis.

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65 024

Women receive the diagnosis karyotype 46,x iso (xq)

1 451 (2.2 %)

Died from this diagnosis.

Risk Group for the Disease karyotype 46,x iso (xq) - Men aged 15-19 and Women aged 10-14

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In Men diagnosis is most often set at age 15-19
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Less common in men the disease occurs at Age 0-14, 20-95+Less common in women the disease occurs at Age 50-54, 65-95+
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In Women diagnosis is most often set at age 0-49, 55-64

Disease Features karyotype 46,x iso (xq)

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Absence or low individual and public risk
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Karyotype 46,x iso (xq) - what does this mean

Karyotype 46,x iso (xq) is a chromosomal disorder caused by an extra x chromosome on the long arm of the x chromosome (xq). this disorder is seen in females and can cause a variety of physical and mental health issues. these issues can range from mild to severe, including cognitive impairment, learning disabilities, and physical abnormalities.

What happens during the disease - karyotype 46,x iso (xq)

Karyotype 46,x iso (xq) is a chromosomal disorder caused by the presence of an extra x chromosome, resulting in an abnormal karyotype of 46,x,xq. this extra x chromosome can cause a variety of physical and mental health issues, such as infertility, developmental delays, and cognitive impairments. additionally, this disorder can lead to an increased risk of certain types of cancers, such as leukemia and ovarian cancer.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Complete Blood Count (CBC)
  • Fluorescence in situ hybridization (FISH)
  • X-ray of the hands and feet
  • Ultrasound of the abdomen
  • MRI of the brain
  • Karyotype analysis
  • Genetic counseling

Treatment and Medical Assistance

Main Goal: To provide a comprehensive treatment plan for Karyotype 46,X iso (Xq).
  • Provide genetic counseling to the patient and their family.
  • Administer hormone replacement therapy to combat the symptoms of hypogonadism.
  • Monitor and manage any associated medical conditions, such as infertility.
  • Provide psychological support to the patient and their family.
  • Refer the patient to a specialist for further treatment if needed.
  • Assess the patient's risk for developing certain medical conditions related to Karyotype 46,X iso (Xq).
  • Monitor the patient's response to treatment and adjust the treatment plan as needed.
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9 Days of Hospitalization Required
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71 Hours Required for Outpatient Treatment

Karyotype 46,x iso (xq) - Prevention

Karyotype 46,x iso (xq) is a rare chromosomal abnormality. the best way to prevent this condition is to ensure that all pregnant women receive prenatal care, including genetic counseling and ultrasound testing. additionally, avoiding environmental toxins, such as cigarette smoke, and maintaining a healthy lifestyle, including a balanced diet and regular exercise, may help to reduce the risk of this condition.