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Article

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

European journal of medical genetics - 1 Apr 2013

Žilina Olga, Reimand Tiia, Tammur Pille, Tillmann Vallo, Kurg Ants, Õunap Katrin

Abstract excerpt

The recent implementation of array techniques in research and clinical practice has revealed the existence of recurrent reciprocal deletions and duplications in several genome loci. The most intriguing feature is that some reciprocal genomic events can result in opposite phenotypic outcome. One of such examples is 5q35.2-q35.3. Deletions in this locus lead to Sotos syndrome characterized by childhood overgrowth...

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PMID: 23369838
DOI: 10.1016/j.ejmg.2013.01.008

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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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