Norman M G, Harrison K J, Poskitt K J, Kalousek D K
Department of Pathology, British Columbia Children's Hospital, Vancouver, Canada.
Pediatr Pathol Lab Med. 1995 Jan-Feb;15(1):109-20. doi: 10.3109/15513819509026943.
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.
9号染色体短臂重复是一种罕见的染色体结构异常。在两例病例中，其中一例经病理证实存在脉络丛增生，另一例存在脉络丛乳头状瘤，这增加了9号染色体短臂异常与脉络丛异常生长之间存在关联的可能性。运用荧光原位杂交技术进行分子细胞遗传学分析，以检测各种福尔马林固定的脉络丛异常中的9号染色体衍生物质。在增生性脉络丛和脉络丛癌中发现了额外的9号染色体衍生物质拷贝。这些发现表明，9号染色体物质的重复与脉络丛的异常发育之间可能存在关联。
