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Related Experiment Videos

Two conceptions in a 45,X woman

G Kohn, S Yarkoni, M M Cohen

    American Journal of Medical Genetics
    |January 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    Women with Ullrich-Turner syndrome (45,X) can achieve pregnancy despite miscarriages. Genetic counseling for these patients should be reevaluated, considering amniocentesis in successful pregnancies.

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    Area of Science:

    • Genetics
    • Reproductive Medicine
    • Human Chromosome Abnormalities

    Background:

    • Ullrich-Turner syndrome (45,X) is a condition affecting females, characterized by a missing or partially missing X chromosome.
    • While often associated with infertility, some individuals with Ullrich-Turner syndrome can conceive.

    Observation:

    • This case report details a 31-year-old woman with a 45,X karyotype and a history of two miscarriages who achieved pregnancy.
    • This brings the total reported cases of successful pregnancies in non-mosaic Ullrich-Turner syndrome patients to eleven.

    Findings:

    • Literature review indicates a higher incidence of chromosomal abnormalities and fetal demise in the offspring of patients with Ullrich-Turner syndrome.
    • Despite these risks, the fertility observed in these patients warrants further investigation.

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    Implications:

    • The fertility potential in Ullrich-Turner syndrome necessitates a reevaluation of current genetic counseling practices.
    • Recommending prenatal diagnosis, such as amniocentesis, may be advisable for pregnant patients with Ullrich-Turner syndrome to monitor fetal health.