AI Article Synopsis
- A patient with ectrodactyly ectodermal dysplasia-clefting (EEC) syndrome was found to have a deletion on chromosome 19q13.11 after long-term monitoring.
- Researchers recommend that individuals diagnosed with EEC should be tested for this specific microdeletion.
- The study suggests that certain genetic elements should be included in testing to cover a minimal overlapping region related to the microdeletion.
Article Abstract
We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia-clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include and to a minimal overlapping region.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028370 | PMC |
| http://dx.doi.org/10.1002/ccr3.1600 | DOI Listing |
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