Literature DB >> 131663

Clinical diagnosis of Down's syndrome.

J F Jackson, E R North, J G Thomas.   

Abstract

A physical examination checklist of 25 signs of Down's syndrome was used to predict the presence of absence of 21-trisomy in 291 individuals examined for suspected Downs syndrome. Using only total numbers of signs present, 21-trisomy was unambiguously predicted in about half those examined. Discriminant analysis using the most informative 10 signs misclassified only 11 of 169 infants aged 2 years or less, and allowed non-overlapping classification into Down's and non-Down's of almost three-fourths of suspected individuals. The risk for Down's syndrome in the overlap area was 58%.

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Year:  1976        PMID: 131663     DOI: 10.1111/j.1399-0004.1976.tb01601.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  20 in total

1.  A case of apparent trisomy 21 without the Down's syndrome phenotype.

Authors:  D Avramopoulos; I Kennerknecht; G Barbi; D Eckert; J M Delabar; C Maunoury; A Hallberg; M B Petersen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  The distorted shell method for clustering for syndrome classification.

Authors:  B MacGibbon; M Preus
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

3.  Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

Authors:  Z Rahmani; J L Blouin; N Creau-Goldberg; P C Watkins; J F Mattei; M Poissonnier; M Prieur; Z Chettouh; A Nicole; A Aurias
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205

4.  Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.

Authors:  J L Blouin; A Aurias; N Créau-Goldberg; F Apiou; C Alcaide-Loridan; A Bruel; M Prieur; J Kraus; J M Delabar; P M Sinet
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

5.  Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Authors:  Robert Lyle; Frédérique Béna; Sarantis Gagos; Corinne Gehrig; Gipsy Lopez; Albert Schinzel; James Lespinasse; Armand Bottani; Sophie Dahoun; Laurence Taine; Martine Doco-Fenzy; Pascale Cornillet-Lefèbvre; Anna Pelet; Stanislas Lyonnet; Annick Toutain; Laurence Colleaux; Jürgen Horst; Ingo Kennerknecht; Nobuaki Wakamatsu; Maria Descartes; Judy C Franklin; Lina Florentin-Arar; Sophia Kitsiou; Emilie Aït Yahya-Graison; Maher Costantine; Pierre-Marie Sinet; Jean M Delabar; Stylianos E Antonarakis
Journal:  Eur J Hum Genet       Date:  2008-11-12       Impact factor: 4.246

6.  Diagnosis of Down's syndrome at birth.

Authors: 
Journal:  Br Med J       Date:  1976-10-09

7.  Diagnosis of Down's syndrome at birth.

Authors:  M K Strelling
Journal:  Br Med J       Date:  1976-12-04

8.  Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.

Authors:  R Valero; G Marfany; R Gil-Benso; M A Ibáñez; I López-Pajares; F Prieto; G Rullan; E Sarret; R Gonzàlez-Duarte
Journal:  J Med Genet       Date:  1999-09       Impact factor: 6.318

9.  Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.

Authors:  Stephan Kemeny; Christophe Tatout; Gaelle Salaun; Céline Pebrel-Richard; Carole Goumy; Natasha Ollier; Eugenie Maurin; Bruno Pereira; Philippe Vago; Laetitia Gouas
Journal:  Chromosoma       Date:  2017-12-14       Impact factor: 4.316

10.  SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).

Authors:  N J Leschot; R M Slater; H Joenje; M J Becker-Bloemkolk; J J de Nef
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

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