Pure distal 9p deletion in a female infant with cerebral palsy.

Genet. Couns.2012;23(2):215-21

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We report cytogenetic and molecular characterization of a 15.63-Mb pure distal deletion of chromosome 9p (9p22.3-->pter) in a l 1/2-year-old female infant with cerebral palsy and diffuse cerebral dysfunction. The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin.

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Pure distal 9p deletion in a female infant with cerebral palsy.

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