普拉德-威利综合征的掌指纹型分析
Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome.
作者信息
Butler M G, Kaler S G, Yu P L, Meaney F J
出版信息
Clin Genet. 1982 Dec;22(6):315-20. doi: 10.1111/j.1399-0004.1982.tb01846.x.
Abstract
Metacarpophalangeal pattern profile (MCPP) was determined on 16 Prader-Willi patients. Chromosome analysis of 14 patients showed an interstitial deletion of the long arm of chromosome 15 in seven subjects and normal chromosome results for the remaining individuals. Two separate and distinguishable hand profiles for each group based on the chromosome findings were identified. Correlation studies confirmed the homogeneity of the chromosome deletion group relative to the Prader-Willi individuals with normal chromosomes. Discriminant analysis of Prader-Willi versus normal individuals produces a function of three MCPP variables plus age which may provide a useful tool for diagnosis.
摘要
对16名普拉德-威利综合征患者进行了掌指纹型分析（MCPP）。14名患者的染色体分析显示，7名患者存在15号染色体长臂的间质缺失，其余个体的染色体结果正常。根据染色体检查结果，为每组确定了两种不同且可区分的手部特征。相关性研究证实了染色体缺失组相对于染色体正常的普拉德-威利个体的同质性。对普拉德-威利综合征患者与正常个体进行判别分析，得出了一个由三个MCPP变量和年龄组成的函数，这可能为诊断提供一个有用的工具。
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