Literature DB >> 3239565

Metacarpophalangeal pattern profile analysis in fragile X syndrome.

M G Butler1, M Fletcher, D D Gale, F J Meaney, D R McLeod, J Fagan, N J Carpenter.   

Abstract

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.

Entities:  

Mesh:

Year:  1988        PMID: 3239565      PMCID: PMC5459607          DOI: 10.1002/ajmg.1320310406

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  10 in total

1.  Metacarpophalangeal pattern profile analysis in Sotos syndrome: a follow-up report on 34 subjects.

Authors:  M G Butler; P F Dijkstra; F J Meaney; D D Gale
Journal:  Am J Med Genet       Date:  1988-01

2.  Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method.

Authors:  M G Butler; F J Meaney; S G Kaler
Journal:  Am J Phys Anthropol       Date:  1986-06       Impact factor: 2.868

3.  Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors:  A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal:  Radiology       Date:  1972-07       Impact factor: 11.105

4.  Metacarpophalangeal length in the evaluation of skeletal malformation.

Authors:  S M Garn; K P Hertzog; A K Poznanski; J M Nagy
Journal:  Radiology       Date:  1972-11       Impact factor: 11.105

5.  Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.

Authors:  N J Carpenter; L G Leichtman; B Say
Journal:  Am J Dis Child       Date:  1982-05

6.  Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin.

Authors:  J M Wit; F A Beemer; P G Barth; J W Oorthuys; P F Dijkstra; J L Van den Brande; N J Leschot
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

7.  Applications of the pattern variability index (sigma z) to the quantification of dysmorphogenesis in the hand.

Authors:  S M Garn; W R Leonard; A K Poznanski
Journal:  Am J Med Genet       Date:  1987-05

8.  Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes.

Authors:  F A Beemer; H Veenema; J M de Pater
Journal:  Am J Med Genet       Date:  1986 Jan-Feb

9.  Population incidence and segregation ratios in the Martin-Bell syndrome.

Authors:  T P Webb; S E Bundey; A I Thake; J Todd
Journal:  Am J Med Genet       Date:  1986 Jan-Feb

10.  Nonspecific X-linked mental retardation II: the frequency in British Columbia.

Authors:  D S Herbst; J R Miller
Journal:  Am J Med Genet       Date:  1980
  10 in total
  6 in total

1.  Metacarpophalangeal pattern profile analysis in Noonan syndrome.

Authors:  M G Butler; R Kumar; M F Davis; D D Gale; G A Dahir; F J Meaney
Journal:  Am J Med Genet       Date:  2000-05-15

2.  Standards for selected anthropometric measurements in males with the fragile X syndrome.

Authors:  M G Butler; A Brunschwig; L K Miller; R J Hagerman
Journal:  Pediatrics       Date:  1992-06       Impact factor: 7.124

3.  General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.

Authors:  B B de Vries; H Robinson; I Stolte-Dijkstra; C V Tjon Pian Gi; P F Dijkstra; J van Doorn; D J Halley; B A Oostra; G Turner; M F Niermeijer
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

4.  Anthropometric comparison of mentally retarded males with and without the fragile X syndrome.

Authors:  M G Butler; G A Allen; J L Haynes; D N Singh; M S Watson; W R Breg
Journal:  Am J Med Genet       Date:  1991 Feb-Mar

5.  Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome.

Authors:  M G Butler; R Pratesi; M S Watson; W R Breg; D N Singh
Journal:  Clin Genet       Date:  1993-09       Impact factor: 4.438

6.  Fmr1-Deficiency Impacts Body Composition, Skeleton, and Bone Microstructure in a Mouse Model of Fragile X Syndrome.

Authors:  Antoine Leboucher; Patricia Bermudez-Martin; Xavier Mouska; Ez-Zoubir Amri; Didier F Pisani; Laetitia Davidovic
Journal:  Front Endocrinol (Lausanne)       Date:  2019-10-02       Impact factor: 5.555

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.