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.