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Article

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.

European journal of human genetics : EJHG - 1 Jan 2000

Genuardi M, Tozzi C, Pomponi M G, Stagni M L, Della Monica M, Scarano G, Calvieri F, Torrisi L, Neri G

Abstract excerpt

Mosaicism for trisomy 17 in amniocyte cultures is a rare finding, whilst postnatal cases are exceptional. In order to gain insight into the possible effects of the distribution of the trisomic line and of uniparental disomy (UPD) on embryofoetal development, we have performed follow-up clinical, cytogenetic and molecular investigations into three newly detected prenatal cases of trisomy 17 mosaicism identified in...

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Identifiers

PMID: 10352932
DOI: 10.1038/sj.ejhg.5200333

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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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