Ontology highlight
ABSTRACT:
SUBMITTER: Hestand MS
PROVIDER: S-EPMC4892188 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Hestand Matthew S MS Nowakowska Beata A BA Vergaelen Elfi E Van Houdt Jeroen J Dehaspe Luc L Suhl Joshua A JA Del-Favero Jurgen J Mortier Geert G Zackai Elaine E Swillen Ann A Devriendt Koenraad K Gur Raquel E RE McDonald-McGinn Donna M DM Warren Stephen T ST Emanuel Beverly S BS Vermeesch Joris R JR
Human genome variation 20160114
The 22q11.2 deletion syndrome is the most common microdeletion disorder, with wide phenotypic variability. To investigate variation within the non-deleted allele we performed targeted resequencing of the 22q11.2 region for 127 patients, identifying multiple deletion sizes, including two deletions with atypical breakpoints. We cataloged ~12,000 hemizygous variant positions, of which 84% were previously annotated. Within the coding regions 95 non-synonymous variants, three stop gains, and two fram ...[more]