Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature

Autor: Saumya Shekhar Jamuar, Maggie Brett, Jonathan Tze Liang Choo, Angeline H. M. Lai, Ene-Choo Tan, Biju Thomas, Jiin Ying Lim, Hai-Yang Law, Neha Singh Bhatia
Rok vydání: 2019
Předmět:
Zdroj: Clinical Dysmorphology. 28:53-56
ISSN: 0962-8827
Popis: Palumbo et al. (2015) reported a female with chromosome 12q24.31 microdeletion presenting with neurodevelopmental delay, seizures, intellectual disability, and dysmorphic features, who was also noted to have a patent foramen ovale requiring interatrial repair at 18 months of age. Although they did c
Databáze: OpenAIRE