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.
|Digital Object Identifier (DOI):||10.3389/fgene.2017.00206|
|Codice identificativo ISI:||WOS:000417158600001|
|Codice identificativo Scopus:||2-s2.0-85037043263|
|Titolo:||Developmental coordination disorder in a patient with mental disability and a mild phenotype carrying terminal 6q26-qter deletion|
|Appare nelle tipologie:||1.1 Articolo in rivista|