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Article

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

American journal of medical genetics. Part A - 1 Feb 2015

Palumbo Orazio, Palumbo Pietro, Delvecchio Maurizio, Palladino Teresa, Stallone Raffaella, Crisetti Matteo, Zelante Leopoldo, Carella Massimo

Abstract excerpt

We provide a detailed clinical and molecular characterization of an 11-year-old female patient presenting with neurodevelopmental delay (NDD), intellectual disability (ID), seizures, stereotypies and dysmorphic features. Chromosomal microarrays analysis (CMA) detected a small, rare de novo deletion on chromosome 12q24.31 encompassing 31 protein-coding RefSeq genes and a microRNA. Phenotypic comparison with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25428890
DOI: 10.1002/ajmg.a.36872

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