Suppr超能文献

普拉德-威利综合征的皮纹特征与染色体检查结果的关系

Dermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings.

作者信息

Reed T, Butler M G

出版信息

Clin Genet. 1984 Apr;25(4):341-6. doi: 10.1111/j.1399-0004.1984.tb02001.x.

Abstract

Dermatoglyphic findings were compared in 38 Prader-Willi syndrome (PWS) patients and 270 normal controls. Twenty-one of the PWS patients had an interstitial deletion of the proximal long arm of chromosome 15 and seventeen PWS cases had normal chromosomes. Findings in PWS are not diagnostic but do show some consistent deviations that can be used in the clinical evaluation of PWS patients. These include a displacement of the axial triradius away from the normal proximal position, an excess of whorls primarily on the thumbs, radial termination of the palmar A mainline, and lack of arches on the big toe. Deletion PWS patients were much more homogeneous than non-deletion cases with respect to plantar patterns. The previously reported deficit of plantar pattern intensity was restricted only to deletion PWS and was characterized by a lack of plantar interdigital II-IV patterns with almost exclusively hallucal distal loops.

摘要

对38例普拉德-威利综合征(PWS)患者和270名正常对照者的皮纹特征进行了比较。其中21例PWS患者存在15号染色体长臂近端的间质缺失,17例PWS患者染色体正常。PWS的皮纹特征虽不具有诊断性,但确实显示出一些一致的偏差,可用于PWS患者的临床评估。这些偏差包括轴三角从正常近端位置移位、主要在拇指上的涡纹过多、手掌A主线的桡侧终止以及大脚趾上缺乏弓纹。就足底纹型而言,缺失型PWS患者比非缺失型病例更为一致。先前报道的足底纹型强度不足仅局限于缺失型PWS,其特征是缺乏足底II-IV趾间纹型,几乎全是拇趾远端箕纹。

相似文献

3
Dermatoglyphic analyses of 32 parents of Prader-Willi syndrome individuals.
J Ment Defic Res. 1984 Dec;28 ( Pt 4):275-80. doi: 10.1111/j.1365-2788.1984.tb01021.x.

引用本文的文献

2
Prader-Willi Syndrome: Clinical and Genetic Findings.普拉德-威利综合征:临床与遗传学发现。
Endocrinologist. 2000 Jul;10(4 Suppl 1):3S-16S. doi: 10.1097/00019616-200010041-00002.

本文引用的文献

4
Dermatoglyphics in medicine--problems and use in suspected chromosome abnormalities.
Am J Med Genet. 1981;8(4):411-29. doi: 10.1002/ajmg.1320080407.
6
The Prader-Willi syndrome.普拉德-威利综合征
Am J Dis Child. 1969 Feb;117(2):213-8. doi: 10.1001/archpedi.1969.02100030215018.
9
Dermatoglyphics in Prader-Willi syndrome.普拉德-威利综合征中的皮纹学
J Ment Defic Res. 1975 Sep-Dec;19(3-4):245-58. doi: 10.1111/j.1365-2788.1975.tb01276.x.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验