Article
Recurrent trisomy 21 and uniparental disomy 21 in a family.
Fetal diagnosis and therapy - 1 Jan 2000
Bán Zoltán, Nagy Bálint, Papp Csaba, Beke Artúr, Tóth-Pál Erno, Papp Zoltán
Abstract excerpt
OBJECTIVE: A 32-year-old pregnant woman was referred to our genetic counselling because of recurrent trisomy 21 in the family. Analysis of amniotic fluid cell culture revealed karyotype 47,XY+21 of the fetus. METHODS: Karyotyping and molecular analysis were undertaken in the fetal and parental samples to determine the origin of the extra chromosome 21. RESULTS: Both parents had a normal blood karyotype....
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