染色体异常与青光眼：一例与9p缺失综合征相关的先天性青光眼病例。
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma associated with 9p deletion syndrome.
作者信息
Saha Konal, Lloyd Ian Christopher, Russell-Eggitt Isabelle Mary, Taylor David Samuel Irving
机构信息
Manchester Royal Eye Hospital, Manchester, United Kingdom.
出版信息
Ophthalmic Genet. 2007 Jun;28(2):69-72. doi: 10.1080/13816810701351339.
PURPOSE
To present a case of congenital glaucoma associated with 9p22.3-pter deletion as the sole identified genetic abnormality. To compile cases of chromosome 9p deletion associated with congenital glaucoma from the literature.
METHOD
A review of case notes of the proband. Literature search using PubMed and Medline to identify other cases of chromosome 9p deletion associated with congenital glaucoma.
RESULTS
A total of four cases of chromosome 9p deletion associated with congenital glaucoma have now been reported in the literature.
CONCLUSION
A female infant with a chromosome 9p22.3-pter deletion presented with congenital glaucoma in addition to systemic features typical of the 9p deletion syndrome. Congenital glaucoma is not an invariant feature of 9p deletion syndrome, nonetheless, 9p24 may localise a gene implicated in the condition.
目的
报告一例先天性青光眼合并9p22.3 - pter缺失作为唯一已确定的基因异常病例。从文献中汇编与先天性青光眼相关的9号染色体短臂缺失病例。
方法
回顾先证者的病例记录。使用PubMed和Medline进行文献检索，以确定其他与先天性青光眼相关的9号染色体短臂缺失病例。
结果
文献中现已报道了4例与先天性青光眼相关的9号染色体短臂缺失病例。
结论
一名患有9p22.3 - pter缺失的女婴，除了具有9p缺失综合征的典型全身特征外，还患有先天性青光眼。先天性青光眼并非9p缺失综合征的恒定特征，尽管如此，9p24区域可能定位了一个与该病相关的基因。
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