Pure distal 9p deletion in a female infant with cerebral palsy.
GENETIC COUNSELING(2012)
Abstract
Pure distal 9p deletion in a female infant with cerebral palsy: We report cytogenetic and molecular characterization of a 15.63-Mb pure distal deletion of chromosome 9p (9p22.3 -> pter) in a 1 1/2-year-old female infant with cerebral palsy and diffuse cerebral dysfunction. The deletion is of paternal origin and encompasses the genes of ANKRDI5, DOCK8, FOXD4 and VLDLR. We discuss the genotypephenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin.
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Key words
9p deletion syndrome,ANKRD15,Cerebral Palsy,DOCK8,FOXD4,Monosomy 9p,VLDLR
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