Open AccessA 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
Author(s) -
Quintela Ines,
FernandezPrieto Montse,
GomezGuerrero Lorena,
Resches Mariela,
Eiris Jesus,
Barros Francisco,
Carracedo Angel
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.255
Subject(s) - medicine , concomitant , microdeletion syndrome , autism , copy number variation , gene deletion , psychiatry , genetics , pediatrics , gene , phenotype , biology , genome , mutant
Key Clinical Message 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.