RT Journal Article
T1 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
A1 Quintela García, Inés
A1 Fernández Prieto, Montserrat
A1 Gómez Herrero, Lorena
A1 Resches Zlotnik, Mariela
A1 Eirís Puñal, Jesús Manuel
A1 Barros Angueira, Francisco
A1 Carracedo Álvarez, Ángel
K1 6q14.1-q15 microdeletion
K1 Autistic disorder
K1 Intellectual disability
K1 Xp22.31 gain
AB 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
PB Wiley
SN 2050-0904
YR 2015
FD 2015
LK http://hdl.handle.net/10347/21614
UL http://hdl.handle.net/10347/21614
LA eng
NO Clinical Case Reports 2015; 3( 6): 415– 423
DS Minerva
RD 28 abr 2026