Open AccessDiagnostic exome sequencing identifies GLI 2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies
Author(s) -
Sajan Samin A.,
Powis Zöe,
Helbig Katherine L.,
Nagakura Honey,
Immken Ladonna,
Tang Sha,
Alcaraz Wendy A.
Publication year - 2018
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/ccr3.1575
Subject(s) - haploinsufficiency , exome sequencing , uniparental disomy , medicine , genetics , exome , genetic diagnosis , chromosome , mutation , karyotype , biology , phenotype , gene
Key Clinical Message Clinical diagnostic exome sequencing ( DES ) is currently infrequently used for detecting uniparental disomy ( UPD ). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identified through DES . We therefore recommend routine UPD analysis during DES to identify this genetic aberration.