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Trisomy 20 mosaicism.

P Miny, I H Pawlowitzki

    Prenatal Diagnosis
    |November 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    Trisomy 20 mosaicism detected during amniocentesis reflects fetal mosaicism. While not typically causing severe malformations, its impact on intellectual development requires further investigation.

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    Area of Science:

    • Genetics
    • Prenatal Diagnosis
    • Fetal Development

    Background:

    • Trisomy 20 mosaicism is a rare chromosomal abnormality.
    • Detection during amniocentesis necessitates careful genetic counseling.
    • Published data on pregnancy outcomes is limited.

    Purpose of the Study:

    • To present an additional case of trisomy 20 mosaicism.
    • To review existing literature on trisomy 20 mosaicism.
    • To clarify the implications for genetic counseling.

    Main Methods:

    • Case presentation of a trisomy 20 mosaicism pregnancy.
    • Literature review of 19 published cases of trisomy 20 mosaicism.
    • Analysis of fetal autopsy findings and pregnancy outcomes.

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    Main Results:

    • The presented case involved a terminated pregnancy with fetal dysmorphia and minor anomalies.
    • Five of the reviewed pregnancies resulted in normal newborns.
    • Autopsy findings in seven fetuses revealed mostly minor anomalies with unclear significance.

    Conclusions:

    • Trisomy 20 mosaicism in amniotic fluid cells indicates fetal mosaicism.
    • Severe malformations are not a primary characteristic of trisomy 20 mosaicism.
    • The risk of intellectual disability remains undetermined due to limited data, but the condition may not be definitively harmful.