阿拉吉列综合征患者20号染色体微缺失的筛查。
Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.
作者信息
Desmaze C, Deleuze J F, Dutrillaux A M, Thomas G, Hadchouel M, Aurias A
机构信息
CNRS URA 620, Institut Curie, Paris, France.
出版信息
J Med Genet. 1992 Apr;29(4):233-5. doi: 10.1136/jmg.29.4.233.
Abstract
We report a cytogenetic and molecular study of a series of patients with Alagille syndrome. All 14 patients were studied with high resolution banding techniques and eight of them were also analysed with non-radioactive in situ hybridisation of the cosmid probe D20S6. Seven of these eight patients were also studied for allelic losses at the D20S6 locus. No microdeletion of chromosome 20 was found in this series.
摘要
我们报告了一系列阿拉吉耶综合征患者的细胞遗传学和分子学研究。所有14例患者均采用高分辨率显带技术进行研究，其中8例还采用黏粒探针D20S6进行了非放射性原位杂交分析。这8例患者中的7例还研究了D20S6位点的等位基因缺失情况。该系列研究中未发现20号染色体微缺失。
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