Duplication of 9P and hyperplasia of the choroid plexus: a pathologic, radiologic, and molecular cytogenetics study.
Duplication of the short arm of chromosome 9 is a rare constitutional abnormality, and the presence of pathologically confirmed hyperplasia of the choroid plexus in one of two cases, and a choroid plexus papilloma in another, raises the possibility of a relationship between the 9p abnormality and abnormal growth of the choroid plexus. Molecular cytogenetic analysis using fluorescence in situ hybridization was used for detection of chromosome 9-derived material in various formalin-fixed choroid plexus abnormalities. Extra copies of chromosome 9-derived material was found in the hyperplastic choroid plexus and in a choroid plexus carcinoma. These findings suggest that there may be an association between duplication of chromosome 9 material and abnormal development of the choroid plexus.
Norman
M G
MG
Department of Pathology, British Columbia Children's Hospital, Vancouver, Canada.
Harrison
K J
KJ
Poskitt
K J
KJ
Kalousek
D K
DK
D002277:Carcinoma / Q000473:pathology; D002830:Choroid Neoplasms / Q000473:pathology; D002831:Choroid Plexus / Q000000981:diagnostic imaging* / Q000473:pathology*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006965:Hyperplasia / Q000473:pathology*; D007231:Infant, Newborn; D008297:Male; D008967:Molecular Biology / Q000379:methods*; D010212:Papilloma / Q000473:pathology; D011859:Radiography