迈向22q11缺失的早期诊断。
Towards earlier diagnosis of 22q11 deletions.
作者信息
Tobias E S, Morrison N, Whiteford M L, Tolmie J L
机构信息
Yorkhill NHS Trust, Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, UK.
出版信息
Arch Dis Child. 1999 Dec;81(6):513-4. doi: 10.1136/adc.81.6.513.
Abstract
Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.
摘要
在7年的时间里，通过荧光原位杂交技术对551名患者进行了22号染色体q11缺失情况的调查。对67名存在该染色体缺失的个体的临床表现进行分析后，我们制定了有助于早期诊断的指导原则。
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本文引用的文献
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Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature.伴有22q11.2染色体区域缺失的家族性迪格奥尔格综合征/心脏-颜面综合征：五个家族的报告并文献复习
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