title: Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya.
abstract: A 7-year-old white girl presented with left hemiparesis and ischemic stroke secondary to moyamoya syndrome, a progressive cerebrovascular occlusive disorder of uncertain but likely multifactorial etiology. Past medical history revealed hearing loss and developmental delay/intellectual disability. Routine karyotype demonstrated extra chromosomal material on 6p. Single nucleotide polymorphism microarray revealed a previously unreported complex de novo genetic rearrangement involving subtelomeric segments on chromosomes 6p and 12q. The duplicated/deleted regions included several known OMIM-annotated genes. This novel phenotype and genotype provides information about a possible association of genomic copy number variation and moyamoya syndrome. Dosage-sensitive genes in the deleted and duplicated segments may be involved in aberrant vascular proliferation. Our case also emphasizes the importance of comprehensive evaluation of both developmental delay and congenital anomalies such as moyamoya.
authors.affiliation: Department of Pediatrics, New York University School of Medicine, New York, NY, USA. rebecca.rosenberg@nyumc.org
authors.forename: Rebecca E
authors.initials: RE
authors.lastname: Rosenberg
authors.forename: Maureen
authors.initials: M
authors.lastname: Egan
authors.forename: Shaun
authors.initials: S
authors.lastname: Rodgers
authors.forename: David
authors.initials: D
authors.lastname: Harter
authors.forename: Rachel D
authors.initials: RD
authors.lastname: Burnside
authors.forename: Sarah
authors.initials: S
authors.lastname: Milla
authors.forename: John
authors.initials: J
authors.lastname: Pappas
mesh_terms: D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D006801:Humans; D009072:Moyamoya Disease / Q000235:genetics*; D010641:Phenotype
keywords: 12q deletion; 6p trisomy; moyamoya