title: [7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome].
abstract: Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytoband 7p14.1 and characterized by the clinical triad of polysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig cephalopolysyndactyly contiguous gene syndrome is a multiple malformation syndrome caused by haploinsufficiency of GLI3 and adjacent genes. We describe the case of a newborn female with polysyndactyly, hypertelorism and microcephaly and a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH.
authors.affiliation: Unidad de Neonatología, Hospital General Universitario, Alicante, España.
authors.forename: D
authors.initials: D
authors.lastname: Montoro Cremades
authors.forename: I
authors.initials: I
authors.lastname: Manchón Trives
authors.forename: V
authors.initials: V
authors.lastname: Botella López
authors.forename: L
authors.initials: L
authors.lastname: Alcaraz Más
authors.forename: M R
authors.initials: MR
authors.lastname: García Martínez
authors.forename: F
authors.initials: F
authors.lastname: Galán Sánchez
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype