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

Pediatrics

Volumn 131, Issue 6, 2013, Pages

  Rosenberg, Rebecca E ^a   Egan, Maureen ^a   Rodgers, Shaun ^a   Harter, David ^a   Burnside, Rachel D ^b   Milla, Sarah ^a   Pappas, John ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

12q deletion; 6p trisomy; Moyamoya

Indexed keywords

CEFTRIAXONE;

ARTICLE; BRAIN ISCHEMIA; CASE REPORT; CHILD; CHROMOSOME 12Q; CHROMOSOME 6P; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HEARING IMPAIRMENT; HEMIPARESIS; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MEDICAL HISTORY; MENINGITIS; MOYAMOYA DISEASE; OCCLUSIVE CEREBROVASCULAR DISEASE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

12Q DELETION; 6P TRISOMY; MOYAMOYA;

CHILD; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; HUMANS; MOYAMOYA DISEASE; PHENOTYPE;

EID: 84878698806     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2012-0749     Document Type: Article

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