Meaney F John, Butler Merlin G
Hypertension Research Center, Charles R. Drew University of Medicine and Science.
Department of Pediatrics, Vanderbilt University School of Medicine.
Med Anthropol Q. 1989 Sep;3(3):294-305. doi: 10.1525/maq.1989.3.3.02a00080. Epub 2009 Oct 28.
A multidisciplinary study involving cytogenetic, clinical, and anthropometric assessments of Prader-Labhart-Willi Syndrome (PLWS) has focused on improving diagnosis and prognosis in this complex condition. Since one of the major features of PLWS is obesity, 7 of the 26 measurements in the anthropometric evaluation were skinfold thicknesses at different body sites. Forty individuals with PLWS have been assessed. scores were computed for skinfold measurements to examine quantitative differences for fatness at different sites. Data on PLWS individuals, grouped by age, sex, and chromosome type, were compared with normative data for skinfolds. The results suggest that males with PLWS have three times the fatness scores of other males their age, while scores for PLWS females average only twice those of normals. Our research illustrates the utility of anthropometry in the evaluation of patients in clinical genetics and offers a comprehensive approach to the heterogeneity observed in PLWS.
一项涉及普拉德-威利综合征(PLWS)细胞遗传学、临床和人体测量评估的多学科研究致力于改善这种复杂病症的诊断和预后。由于PLWS的主要特征之一是肥胖,因此人体测量评估中的26项测量指标中有7项是不同身体部位的皮褶厚度。已对40名PLWS患者进行了评估。计算了皮褶测量的分数,以检查不同部位肥胖程度的定量差异。将按年龄、性别和染色体类型分组的PLWS患者数据与皮褶厚度的标准数据进行了比较。结果表明,患有PLWS的男性的肥胖分数是同龄其他男性的三倍,而患有PLWS的女性的分数平均仅为正常人的两倍。我们的研究说明了人体测量学在临床遗传学患者评估中的实用性,并为PLWS中观察到的异质性提供了一种全面的方法。