Article
Trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts.
Prenatal diagnosis - 1 Mar 1999
Lesca G, Boggio D, Bellec V, Magaud J P, Till M
Abstract excerpt
This article describes a case of fetal trisomy 17 mosaicism found in amniotic fluid cells in one of two bichorial biamniotic twins without any sonographic anomaly. The extra chromosome 17 was absent from cord blood cells at birth but present on karyotype and in situ hybridization in cultured fibroblasts from skin biopsy. Clinical examination showed a few mild dysmorphic features and a moderate neurological...
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