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Clin Case Rep. 2018 May 8;6(7):1208-1213. doi: 10.1002/ccr3.1575. eCollection 2018 Jul.

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

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Department of Clinical Genomics Ambry Genetics Aliso Viejo CA USA.
Present address: Children's Hospital of Philadelphia Philadelphia PA USA.
Specially for Children Genetics Austin TX USA.


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.


GLI2; developmental anomalies; diagnostic exome sequencing; uniparental disomy

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