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Pediatrics. 2013 Jun;131(6):e1996-2001. doi: 10.1542/peds.2012-0749. Epub 2013 May 27.

Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya.

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Department of Pediatrics, New York University School of Medicine, New York, NY, USA.


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.


12q deletion; 6p trisomy; moyamoya

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