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Article

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.

American journal of medical genetics. Part A - 1 Feb 2013

Bierhals Tatjana, Maddukuri Satish Babu, Kutsche Kerstin, Girisha Katta Mohan

Abstract excerpt

The routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, has led to the delineation of several submicroscopic deletion/duplication syndromes. De novo copy number variations are often presumed to be pathogenic and inherited ones from a healthy parent likely to be not relevant for the phenotype. However, it is difficult to draw such...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23307502
DOI: 10.1002/ajmg.a.35730

Provenance

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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