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Article

A patient with Down syndrome with a de novo derivative chromosome 21.

Gene - 10 Oct 2012

Cetin Zafer, Yakut Sezin, Mihci Ercan, Manguoglu Ayse Esra, Berker Sibel, Keser Ibrahim, Luleci Guven

Abstract excerpt

Pure partial trisomy of chromosome 21 is a rare event. The patients with this aberration are very important for setting up precise karyotype-phenotype correlations particularly in Down syndrome phenotype. We present here a patient with Down syndrome with a de novo derivative chromosome 21. Karyotype of the patient was designated as 46,XY,der(21)(p13)dup(21)(q11.2q21.3)dup(21)(q22.2q22.3) with regard to...

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Identifiers

PMID: 22827956
DOI: 10.1016/j.gene.2012.07.018

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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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