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Article

Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis.

Prenatal diagnosis - 1 Aug 2002

Wilson Susan Clement, Susman Marleen, Bain Sharon, Wohlferd Monica, Van Dyke Daniel L, Daniel Art, White Beverly, Gardner R J McKinlay

Abstract excerpt

We present six cases of 47,+i(5p)/46 mosaicism diagnosed at chorionic villus sampling (CVS), this being the first prospective series to be reported. The clinical indication in each was advanced maternal age. Further prenatal studies in four (amniocentesis, plus fetal blood sampling in one) did not show the isochromosome. In one case, subsequent amniocentesis showed 1/48 in situ colonies with the isochromosome,...

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Identifiers

PMID: 12210576
DOI: 10.1002/pd.379

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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