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Related Experiment Videos

Ring chromosome 13 in a polymalformed anencephalic.

W Schmid, J P Mühlethaler, J Briner

    Humangenetik
    |January 1, 1975
    PubMed
    Summary

    A rare genetic condition, ring chromosome 13, was diagnosed in a fetus with anencephaly. This finding, identified via amniocentesis, highlights the importance of karyotyping in complex congenital malformations.

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    Area of Science:

    • Medical Genetics
    • Prenatal Diagnosis
    • Developmental Biology

    Background:

    • Low estriol levels in pregnancy can indicate fetal distress or developmental issues.
    • Anencephaly is a severe neural tube defect incompatible with life.
    • Congenital malformations require thorough investigation for underlying genetic causes.

    Purpose of the Study:

    • To investigate the cause of anencephaly and multiple malformations detected in late pregnancy.
    • To determine the fetal karyotype in a case of suspected chromosomal abnormality.

    Main Methods:

    • Amniocentesis performed at 33 weeks gestation.
    • Radiographic examination (X-ray) to assess fetal anatomy.
    • Necropsy for detailed examination of malformations.
    • Fetal karyotyping using cultured amniotic fluid cells.

    Main Results:

    • X-ray confirmed anencephaly, leading to induced premature delivery.
    • Necropsy revealed anencephaly and diverse additional malformations.
    • Fetal karyotype analysis identified a ring chromosome 13.

    Conclusions:

    • Ring chromosome 13 is associated with severe congenital anomalies including anencephaly.
    • Prenatal diagnosis of ring chromosome 13 can be achieved through amniocentesis and karyotyping.
    • This case underscores the complexity of genetic disorders manifesting as multiple malformations.

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