title: 14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
abstract: Only two patients with 14q12 deletion have been reported to date. Here, we describe an additional patient with a similar deletion in order to improve the clinical delineation of this new microdeletion syndrome. The emerging phenotype is characterized by a Rett-like clinical course with an almost normal development during the first months of life followed by a period of regression. A peculiar facial phenotype is also present and it is characterized by mild dysmorphisms such as downslanting palpebral fissures, bilateral epicanthic folds, depressed nasal bridge, bulbous nasal tip, tented upper lip, everted lower lip and large ears. The relationship between this microdeletion syndrome and the congenital variant of Rett syndrome due to point mutations in one of the genes included in the deleted region, FOXG1, is discussed.
authors.affiliation: Medical Genetics, University of Siena, Siena, Italy.
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Mencarelli
authors.forename: Tjitske
authors.initials: T
authors.lastname: Kleefstra
authors.forename: Eleni
authors.initials: E
authors.lastname: Katzaki
authors.forename: Filomena Tiziana
authors.initials: FT
authors.lastname: Papa
authors.forename: Monika
authors.initials: M
authors.lastname: Cohen
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
authors.forename: Ilaria
authors.initials: I
authors.lastname: Meloni
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D007223:Infant; D009419:Nerve Tissue Proteins / Q000235:genetics; D015518:Rett Syndrome / Q000235:genetics*; D013577:Syndrome
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins