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lüll Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature Jacob FD; Ramaswamy V; Andersen J; Bolduc FVEur J Hum Genet 2009[Dec]; 17 (12): 1577-81Rett syndrome is a severe neurodegenerative disorder characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in methyl CpG binding protein 2 (MECP2) are identified in most patients with classic Rett syndrome. Genetic studies in patients with a Rett variant have expanded the spectrum of underlying genetic etiologies. Recently, a deletion encompassing several genes in the long arm of chromosome 14 has been associated with the congenital Rett-syndrome phenotype. Using array-based comparative genomic hybridization, we identified a 3-year-old female with a Rett-like syndrome carrying a de novo single-gene deletion of FOXG1. Her presentation included intellectual disability, epilepsy and a Rett-like phenotype. The variant features included microcephaly at birth and prominent synophrys. Our results confirm that congenital Rett syndrome can be caused by copy-number variation in FOXG1 and expand the clinical phenotypic spectrum of FOXG1 defect in humans.|*Comparative Genomic Hybridization[MESH]|*Gene Deletion[MESH]|Child, Preschool[MESH]|Chromosomes, Human, Pair 14/genetics[MESH]|Female[MESH]|Forkhead Transcription Factors/*genetics[MESH]|Humans[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Nerve Tissue Proteins/*genetics[MESH]|Phenotype[MESH]|Pregnancy[MESH]|Rett Syndrome/*genetics[MESH] |