19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype. Issue 7 (28th May 2018)

• Record Type: Journal Article
• Authors: Abe, Kikue Terada; Rizzo, Isabela M. P. O.; Coelho, Ana L. V.; Sakai, Nilo; Carvalho, Daniel R.; Speck‐Martins, Carlos E.
• Is Part Of: Clinical case reports. Volume 6:Issue 7(2018)
• Page Start: 1300
• Page End: 1307
• Publication Date: 2018-05-28
• Subjects: chromosome 19q13.11 deletion syndrome -- developmental disabilities -- ectodermal dysplasia -- intellectual disability; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1600
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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 WTIP and UBA2 to a minimal overlapping region. 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 WTIP and UBA2 to a minimal overlapping region.