Metacarpophalangeal pattern profile analysis in fragile X syndrome

✍ Scribed by Butler, Merlin G. ;Fletcher, Mark ;Gale, David D. ;Meaney, F. John ;McLeod, D. Ross ;Fagan, Joel ;Carpenter, Nancy J. ;Opitz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1988
• Tongue: English
• Weight: 342 KB
• Volume: 31
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320310406

✦ Synopsis

We anaiyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X-fra (X), or Martin-Bell-syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity . Discriminant analysis of individuals with fra (X) syndrome compared with a sample of normal individuals produced a correct classification rate of 88% based on a function of 3 MCPP variables that may provide a useful tool in screening individuals for the fra (X) syndrome. Discriminant and correlation analyses of individuals with Sotos sequence and individuals with fra (X) syndrome did not identify MCPP similarities. Therefore, there was no MCPP evidence in our study of patients with Sotos sequence and fra (X) chromosome expression.