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Article

7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder.

American journal of medical genetics. Part A - 1 Nov 2020

Rieger Melissa, Krumbiegel Mandy, Reuter Miriam S, Schützenberger Anne, Reis André, Zweier Christiane

Abstract excerpt

Chromosomal 7q31 deletions have been described in individuals with variable neurodevelopmental phenotypes including speech and language impairment. These copy number variants usually encompass FOXP2, haploinsufficiency of which represents a widely acknowledged cause for specific speech and language disorders. By chromosomal microarray analysis we identified a 4.7 Mb microdeletion at 7q31.2q31.31 downstream of...

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PMID: 32885567
DOI: 10.1002/ajmg.a.61838

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