Open AccessGenomic characterization of chromosome 8 pericentric trisomy
Author(s) -
Vander Pluym Juliana H.,
O'Sullivan Julia,
Andrew Gail,
Bolduc Francois V.
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/ccr3.234
Subject(s) - comparative genomic hybridization , trisomy , genetics , chromosome , medicine , computational biology , biology , gene
Key Clinical Message We present a patient with trisomy 8p11.21q11.21 associated with language, gross motor, fine motor, and cognitive delay. Furthermore, using array‐based comparative genomic hybridization, we identify the specific genes duplicated in our patient.