Literature DB >> 1895323

Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome.

M M Lai1, J D Spencer, J A Montandon, A C Berry.   

Abstract

We report a case of Klinefelter's syndrome owing to maternal meiotic error associated with triphalangeal thumb and delta phalanx bilaterally. There are no previous reports of similar cases and triphalangism with delta phalanx abnormalities of both thumbs might therefore be considered a further, but rare, manifestation of this aneuploidy.

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Year:  1991        PMID： 1895323      PMCID： PMC1016966          DOI： 10.1136/jmg.28.7.497

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes.

Authors:  P A Jacobs; T J Hassold; E Whittington; G Butler; S Collyer; M Keston; M Lee
Journal:  Ann Hum Genet       Date:  1988-05       Impact factor: 1.670

Review 2.  Genomic imprinting: review and relevance to human diseases.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

3.  Bilateral delta phalanx of the proximal phalanges of the great toes. A report on an affected family.

Authors:  M J Neil; C Conacher
Journal:  J Bone Joint Surg Br       Date:  1984-01

Review 4.  Triphalangeal thumb.

Authors:  Q Qazi; E G Kassner
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

5.  Spectrum of anomalies in Fanconi anaemia.

Authors:  A Glanz; F C Fraser
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

6.  Direct detection of point mutations by mismatch analysis: application to haemophilia B.

Authors:  A J Montandon; P M Green; F Giannelli; D R Bentley
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971
  6 in total

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