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Article

Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms.

Prenatal diagnosis - 1 Dec 2006

Moradkhani Kamran, Puechberty Jacques, Blanchet Patricia, Coubes Christine, Lallaoui Hakima, Lewin Patricia, Lefort Genevieve, Sarda Pierre

Abstract excerpt

OBJECTIVES: This study was undertaken to discuss the workup of trisomy 16 pregnancies. STUDY DESIGN: This case study reports the prenatal detection and postnatal confirmation of mosaic trisomy 16, associated with uniparental disomy (UPD) 16, in a 34-year-old woman who showed elevated maternal serum alpha-fetoprotein and beta-HCG at a gestational age (GA) of 15.5 weeks. RESULTS: Amniotic fluid (AF) karyotyping at...

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Identifiers

PMID: 17075795
DOI: 10.1002/pd.1585

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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