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Article

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.

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

Quintela Ines, Barros Francisco, Castro-Gago Manuel, Carracedo Angel, Eiris Jesus

Abstract excerpt

The 8q21.11 microdeletion syndrome (OMIM # 614230) has been recently described and is primarily characterized by intellectual disability and facial dysmorphism. We describe here a male patient of 9 years 9 months of age with moderate intellectual disability and dysmorphic facial features. A high resolution copy number variation analysis, performed with the Affymetrix Cytogenetics Whole-Genome 2.7 M SNP array,...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 8

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25898976
DOI: 10.1002/ajmg.a.37038

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