19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype

Kikue Terada Abe; Isabela M P O Rizzo; Ana L V Coelho; Nilo Sakai Jr; Daniel R Carvalho; Carlos E Speck-Martins

doi:10.1002/ccr3.1600

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype

Clin Case Rep. 2018 May 28;6(7):1300-1307. doi: 10.1002/ccr3.1600. eCollection 2018 Jul.

Authors

Kikue Terada Abe¹, Isabela M P O Rizzo², Ana L V Coelho², Nilo Sakai Jr¹, Daniel R Carvalho², Carlos E Speck-Martins²

Affiliations

¹ Cytogenetic Laboratory Molecular Pathology SARAH Network of Rehabilitation Hospitals Brasília Brazil.
² Department of Clinical Genetics SARAH Network of Rehabilitation Hospitals Brasília Brazil.

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.

Keywords: chromosome 19q13.11 deletion syndrome; developmental disabilities; ectodermal dysplasia; intellectual disability.

Publication types

Case Reports