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Article

Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18.

American journal of medical genetics. Part A - 1 Mar 2017

Akkurt Mehmet Ozgur, Higgs Amanda, Turan Ozerk T, Turan Ozhan M, Turan Sifa

Abstract excerpt

Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28211984
DOI: 10.1002/ajmg.a.38074

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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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