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Article

Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.

European journal of medical genetics - 1 Dec 2012

Mattina Teresa, Palumbo Orazio, Stallone Raffaella, Pulvirenti Rita Maria, Di Dio Laura, Pavone Piero, Carella Massimo, Pavone Lorenzo

Abstract excerpt

We report on a patient with a recognizable phenotype of intellectual disability, multiple congenital anomalies, musculoskeletal anomalies and craniofacial dysmorphisms, carrying a de novo 0.4 Mb duplication of chromosome region 16p13.3 detected by SNP-array analysis. In addition, myopia, microcephaly and growth retardation were observed. The causal 16p13.3 duplication is one of the smallest reported so far, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23032921
DOI: 10.1016/j.ejmg.2012.09.006

Genes

CREBBP
ADCY9

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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