5p缺失综合征的表型分类及各相关区域的细胞遗传图

目的将５号染色体短臂缺失（５ｐ缺失）综合征的表型进行分类并分别在染色体上进行区域定位。方法采用常规染色体显带和高分辨显带法,对１０６例患者及他们中大多数的父母和同胞进行了细胞遗传学分析,并结合患者的临床诊断资料进行分析。结果将５ｐ缺失综合征的表型分为８类,并将各个类型分别定位在５号染色体的相关区域。结论提出了“５ｐ缺失综合征”的概念与定义,为５ｐ缺失综合征的临床诊断、细胞遗传学以及表型相关基因的定位克隆等方面进一步的研究提供参考。

Dissection and Cytogenetic Localization of the Phenotypes of the 5p Deletion Syndrome

OBJECTIVE: To classify the phenotypes of the short arm of chromosome 5 (5p) deletion syndrome and to localize their corresponding regions in the human genome. METHODS: A hundred and six patients, together with most of their parents and sibs, were analysed both cytogenetically and clinically. The dissection of the syndrome and cytogenetic localization of each phenotype was made by relating the clinical data to the breakpoints involved in the deletions. RESULTS: The 5p deletion syndrome was classified into 8 types based on the combination of the clinical data and high-resolution banding analysis. CONCLUSIONS: The dissection of the "5p deletion syndrome", a term with refined concept suggested by us, and the cytogenetic localization of each distinct phenotype will provide the clear cut criteria for clinical and cytogenetic diagnosis of the 5p-patients, as well as the candidate regions for positional cloning of the gene(s) repossible for the phenotypes.