22Q11 Ireland

Presenting symptoms in adults with the 22q11 deletion syndrome

Presenting symptoms in adults with the 22q11 deletion syndrome A definitive molecular diagnosis of 22q11 Deletion Syndrome (22q11DS) even if occurring later in life, has important genetic, medical and emotional impact on the patients and their families. The aim of this study is to describe presenting symptoms

Interaction of the craniofacial complex and velopharyngeal musculature on speech resonance in children with 22q11.2 deletion syndrome: An MRI analysis

Interaction of the craniofacial complex and velopharyngeal musculature on speech resonance in children with 22q11.2 deletion syndrome: An MRI analysis - PubMed There are limited MRI studies of craniofacial and velopharyngeal features in children with 22q11.2 deletion syndrome (22q11.2DS) and to date, none have explored the potential relationship between these features and the speech phenotype. The purpose of this study was to examine the relationship betwe...