Metacarpophalangeal pattern profile analysis in fragile X syndrome
| Autor: | Merlin G. Butler, Mark Fletcher, David D. Gale, F. John Meaney, D. Ross McLeod, Joel Fagan, Nancy J. Carpenter, John M. Opitz, James F. Reynolds |
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| Rok vydání: | 1988 |
| Předmět: |
Oncology
Adult Male medicine.medical_specialty Adolescent Article Correlation Metacarpophalangeal Joint Classification rate Internal medicine Finger Joint medicine Martin-bell syndrome Humans Profile analysis Genetic Testing Child Genetics (clinical) Sex Chromosome Aberrations Probability Genetics business.industry medicine.disease Linear discriminant analysis Fragile X syndrome Radiography Child Preschool Fragile X Syndrome business |
| Zdroj: | American journal of medical genetics. 31(4) |
| ISSN: | 0148-7299 |
| Popis: | We analyzed 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. |
| Databáze: | OpenAIRE |
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