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 García, InésFernández Prieto, MontserratGómez Herrero, LorenaResches Zlotnik, MarielaEirís Puñal, Jesús ManuelBarros Angueira, FranciscoCarracedo Álvarez, Ángel2020-04-212020-04-212015Clinical Case Reports 2015; 3( 6): 415– 4232050-0904http://hdl.handle.net/10347/21614We 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 debateeng© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial Licensehttps://creativecommons.org/licenses/by-nc/4.0/6q14.1-q15 microdeletionAutistic disorderIntellectual disabilityXp22.31 gainA 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 gainjournal article10.1002/ccr3.255open access