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.

QUINTELA. I. CARRACEDO, A. ; FERNÁNDEZ-PRIETO, M.; GÓMEZ GUERRERO, L. ; RESCHES, M.; EIRIS, J. ; BARROS, F.; CARRACEDO, A.

Clinical Case Reports

John Wiley & Sons Ltd

Año: 2015 vol. 3 p. 415 - 423

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.