Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. Herein, we reported a 3-year-old girl evaluated for facial dysmorphism (long and connected eyebrows, big mouth, wide nasal bridge, high palatine arch, low set ears, and thin hair), growth retardation, intellectual disability, and language delay. Chromosomal microarray analysis revealed an 8.1-Mb deletion within 6q25.1-q25.3 ([hg19] chr6: 152,307,705-160,422,834) comprising 31 genes. Dysmorphic features, microcephaly, intellectual disability, language delay, growth retardation, and corpus callosum dysgenesis were commonly reported. Hence, 6q25 microdeletion is a rare condition. In patients with dysmorphic features, microcephaly, growth retardation, intellectual disability, language delay and corpus callosum dysgenesis, 6q25 microdeletion should be considered in the differential diagnosis and chromosomal microarray analysis should be performed to confirm the diagnosis.
Keywords: 6q25 microdeletion; facial dysmorphism; growth retardation; intellectual disability.