Mild Turner Syndrome - Search
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  2. Mild Turner syndrome occurs when a girl with Turner syndrome is only partially affected1. Symptoms may include:
    Learn more:
    When only part of an X chromosome is missing (deletion), a girl with the syndrome will often have milder signs of TS. The features of TS depend on which part of the X chromosome is missing.
    www.stanfordchildrens.org/en/topic/default?id=turn…
    Many newborns with Turner syndrome are mildly affected, but some have swelling (lymphedema) on the backs of their hands and tops of their feet. Swelling or loose folds of skin are often evident over the back of the neck. Heart defects include narrowing of part of the aorta (coarctation of the aorta).
    www.msdmanuals.com/home/children-s-health-iss…
     
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  6. Also known as: gonadal dysgenesis, monosomy X, bonnevie-ullrich syndrome
    Content medically reviewed by
    Dr. Karthikeya T Mverified specialist
    MD, Internal Medicine
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    Causes

    • The sex is determined by X and Y chromosomes. The male will have one X and one Y chromosome, while the female have 2 copies of X chromosomes. Turner syndrome is the result of a partially or completely missing sex chromosome (X chromosome).
    • The exact cause for this defect is not known.
    • The different genetic alterations could be:
    • Monosomy: Complete absence of an X chromosome. This occurs due to error in mother's egg or father's sperm, which results in single X chromosome in every cell of the body.
    • Mosaicism: Presence of a single one copy of the X chromosome or an altered copy of the chromosome in some cells. This occurs due to error in the cell division during the early stages of fetal development.
    • X chromosome abnormalities: cells have one complete X chromosome and one abnormal or missing. This could occur during developmental stage or because of the error in the egg or sperm.
    • Y chromosome material: some cells have a single copy of the X chromosome, while a few other cells contain some amount of Y chromosome. This condition increases the risk of developing gonadoblastoma, a type of cancer.
    • The genetic alteration happens randomly and the problem in the egg or sperm could be risk factor.
    • The alteration or loss of X chromosome can also happen during the fetal development.

    Symptoms
    Seek immediate medical attention if you experience symptoms.

    Turner syndrome leads to various developmental and medical problems that vary between individuals.

    Prenatal or before birth

    • Excess fluid collection on the back of neck or other parts of the body
    • Heart and kidney abnormalities

    At birth or during infancy

    • Wide or web-like neck
    • Small lower jaw
    • High, narrow roof of the mouth
    • Low hairline at the back of the head
    • Ears set a little lower than normal
    • Broad chest with widely spaced nipples
    • Arms turning outward at the elbows
    • Short fingers and toes
    • Narrow fingernails and toenails that are turned upward
    • Swelling of the hands and feet, especially at birth
    • Reduced height at birth
    • Delayed growth

    Symptoms noted in older girls, teens, and young women

    • Short height
    • Delayed or no puberty
    • Absence of menstruation
    • Incomplete sexual developments
    • Learning disabilities
    • Problems understanding social situations

    Complications

    Complications primarily result from abnormal development of the organs.

    • Increased risk of diabetes and high blood pressure
    • Heart and blood vessel problems
    • Hearing loss
    • Kidney problems
    • Immune system problems
    • Dental problems such as abnormal tooth development and early tooth loss
    • Vision problems
    • Abnormal curvature of spine
    • Infertility

    Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more
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