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

• Published in: Clinical case reports Vol. 6; no. 7; pp. 1300 - 1307
• Main Authors: Abe, Kikue Terada, Rizzo, Isabela M. P. O., Coelho, Ana L. V., Sakai, Nilo, Carvalho, Daniel R., Speck‐Martins, Carlos E.
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.07.2018; John Wiley and Sons Inc
• Subjects: Case Report; Case Reports; chromosome 19q13.11 deletion syndrome; Chromosomes; developmental disabilities; ectodermal dysplasia; Genetic disorders; Genotype & phenotype; Intellectual disabilities; intellectual disability; Medical diagnosis; developmental disabilities; ectodermal dysplasia; intellectual disability; chromosome 19q13.11 deletion syndrome
• ISSN: 2050-0904; 2050-0904
• DOI: 10.1002/ccr3.1600

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. 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.