title: Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association.
abstract: BACKGROUND
  Moyamoya syndrome represents an etiologically heterogeneous cerebral evolutive angiopathy. It can be associated with both well-characterized and recently described genetic conditions with mendelian inheritance.
  
  
  METHODS
  We report the case of a moyamoya angiopathy in a prematurely born girl affected by congenital heart defect, mild facial dysmorphism, mild neurodevelopmental delay and borderline cognitive profile, associated to a de novo complex rearrangement involving the terminal segment of the short arm of chromosome 6.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the second case described of pediatric moyamoya syndrome associated with a 6p complex rearrangement. Adding this case to the pertinent literature, we discuss the pathogenic role of rearrangements in 6p region in moyamoya syndrome and suggest to investigate in this region potential genes involved in angiogenesis or vascular homeostasis.
authors.affiliation: Pediatric Neurology Unit, Department of Woman and Child Health, University Hospital of Padua, Italy. Electronic address: irene.toldo@unipd.it.
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.affiliation: Pediatric Neurology Unit, Department of Woman and Child Health, University Hospital of Padua, Italy. Electronic address: c_p0505@yahoo.it.
authors.forename: Chiara
authors.initials: C
authors.lastname: Po'
authors.affiliation: Pediatric Neurology Unit, Department of Woman and Child Health, University Hospital of Padua, Italy. Electronic address: veronica85mo@libero.it.
authors.forename: Veronica
authors.initials: V
authors.lastname: Morao
authors.affiliation: Neuroradiology Unit, University Hospital of Padua, Italy. Electronic address: giacomo.talenti@fastwebnet.com.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Talenti
authors.affiliation: Neuroradiology Unit, University Hospital of Padua, Italy. Electronic address: francesco.causin@sanita.padova.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Causin
authors.affiliation: Neurosurgery Unit, Department of Neurosciences, University Hospital of Padua, Italy. Electronic address: domenico.davella@unipd.it.
authors.forename: Domenico
authors.initials: D
authors.lastname: D'Avella
authors.affiliation: University of Padua, Italy. Electronic address: romano.tenconi@unipd.it.
authors.forename: Romano
authors.initials: R
authors.lastname: Tenconi
authors.affiliation: Pediatric Neurology Unit, Department of Woman and Child Health, University Hospital of Padua, Italy. Electronic address: suppiej@pediatria.unipd.it.
authors.forename: Agnese
authors.initials: A
authors.lastname: Suppiej
authors.affiliation: Pediatric Neurology Unit, Department of Woman and Child Health, University Hospital of Padua, Italy. Electronic address: stefano.sartori@unipd.it.
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D009072:Moyamoya Disease / Q000235:genetics*
keywords: Chromosome rearrangement; Moyamoya syndrome; Pediatric stroke; Short arm chromosome 6; Transient ischemic attack