title: Pure distal 9p deletion in a female infant with cerebral palsy.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: C-P
authors.initials: CP
authors.lastname: Chen
authors.forename: S-P
authors.initials: SP
authors.lastname: Lin
authors.forename: Y-N
authors.initials: YN
authors.lastname: Su
authors.forename: J-W
authors.initials: JW
authors.lastname: Su
authors.forename: S-R
authors.initials: SR
authors.lastname: Chern
authors.forename: D-D
authors.initials: DD
authors.lastname: Town
authors.forename: W
authors.initials: W
authors.lastname: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D048868:Adaptor Proteins, Signal Transducing; D002547:Cerebral Palsy / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003598:Cytoskeletal Proteins; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007223:Infant; D011973:Receptors, LDL / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C516591:DOCK8 protein, human; C470165:FOXD4 protein, human; D051858:Forkhead Transcription Factors; D020662:Guanine Nucleotide Exchange Factors; C467739:KANK1 protein, human; D011973:Receptors, LDL; D025521:Tumor Suppressor Proteins; C036053:VLDL receptor