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A 6q14.1‐q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain

2015; Wiley; Volume: 3; Issue: 6 Linguagem: Inglês

10.1002/ccr3.255

2050-0904

Inés Quintela, Montserrat Fernández Prieto, Lorena Gómez-Guerrero, Mariela Resches, Jesús Manuel Eirís Puñal, Francisco Barros, Ángel Carracedo,

Chromosomal and Genetic Variations

We report on a male patient with severe autistic disorder, lack of oral language, and dysmorphic features who carries a rare interstitial microdeletion of 4.96 Mb at chromosome 6q14.1-q15. The patient also harbors a maternally inherited copy number gain of 1.69 Mb at chromosome Xp22.31, whose pathogenicity is under debate.