AUTHOR=De Cinque Marianna , Palumbo Orazio , Mazzucco Ermelinda , Simone Antonella , Palumbo Pietro , Ciavatta Renata , Maria Giuliana , Ferese Rosangela , Gambardella Stefano , Angiolillo Antonella , Carella Massimo , Garofalo Silvio TITLE=Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion JOURNAL=Frontiers in Genetics VOLUME=Volume 8 - 2017 YEAR=2017 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2017.00206 DOI=10.3389/fgene.2017.00206 ISSN=1664-8021 ABSTRACT=

Terminal deletion of chromosome 6q is a rare chromosomal abnormality associated with variable phenotype spectrum. Although intellectual disability, facial dysmorphism, seizures and brain abnormalities are typical features of this syndrome, genotype–phenotype correlation needs to be better understood. We report the case of a 6-year-old Caucasian boy with a clinical diagnosis of intellectual disability, delayed language development and dyspraxia who carries an approximately 8 Mb de novo heterozygous microdeletion in the 6q26-q27 locus identified by karyotype and defined by high-resolution SNP-array analysis. This patient has no significant structural brain or other organ malformation, and he shows a very mild phenotype compared to similar 6q26-qter deletion. The patient phenotype also suggests that a dyspraxia susceptibility gene is located among the deleted genes.