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Article

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.

American journal of medical genetics. Part A - 1 May 2014

Zamani Ayse Gul, Acar Aynur, Durakbasi-Dursun Gul, Yildirim M Selman, Ceylaner Serdar, Tuncez Ebru

Abstract excerpt

Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize...

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Identifiers

PMID: 24478222
DOI: 10.1002/ajmg.a.36410

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

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