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Article

2q31.2q32.3 deletion syndrome: report of an adult patient.

American journal of medical genetics. Part A - 15 Feb 2009

Prontera Paolo, Bernardini Laura, Stangoni Gabriela, Capalbo Anna, Rogaia Daniela, Ardisia Carmela, Novelli Antonio, Dallapiccola Bruno, Donti Emilio

Abstract excerpt

A 36-year-old patient with a disorder characterized by severe mental retardation, behavioral problems, dysmorphic face, "muscular build," and hand/foot anomalies, is reported. Following a diagnosis of de novo pericentric inversion of chromosome 8 based on standard cytogenetic analysis, a subseque...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19248183
DOI: 10.1002/ajmg.a.32688

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MSTN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19248183-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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