Diagnostic exome sequencing identifies   GLI 2  haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies | Zendy

Sajan Samin A. | Zendy; Powis Zöe | Zendy; Helbig Katherine L. | Zendy; Nagakura Honey | Zendy; Immken Ladonna | Zendy; Tang Sha | Zendy; Alcaraz Wendy A. | Zendy

Open Access

Diagnostic 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) - medicine , haploinsufficiency , exome sequencing , uniparental disomy , genetics , chromosome , bioinformatics , phenotype , gene , biology , karyotype

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.

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