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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 subsequent 75 kb array-CGH investigation disclosed a deletion spanning for about 13.7 Mb in the 2q31.2q32.3 region. Whole...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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

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