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.
Full text
PDF

Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Glanz A., Fraser F. C. Spectrum of anomalies in Fanconi anaemia. J Med Genet. 1982 Dec;19(6):412–416. doi: 10.1136/jmg.19.6.412. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hall J. G. Genomic imprinting: review and relevance to human diseases. Am J Hum Genet. 1990 May;46(5):857–873. [PMC free article] [PubMed] [Google Scholar]
- Jacobs P. A., Hassold T. J., Whittington E., Butler G., Collyer S., Keston M., Lee M. Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet. 1988 May;52(Pt 2):93–109. doi: 10.1111/j.1469-1809.1988.tb01084.x. [DOI] [PubMed] [Google Scholar]
- Montandon A. J., Green P. M., Giannelli F., Bentley D. R. Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucleic Acids Res. 1989 May 11;17(9):3347–3358. doi: 10.1093/nar/17.9.3347. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Neil M. J., Conacher C. Bilateral delta phalanx of the proximal phalanges of the great toes. A report on an affected family. J Bone Joint Surg Br. 1984 Jan;66(1):77–80. doi: 10.1302/0301-620X.66B1.6693482. [DOI] [PubMed] [Google Scholar]
- Qazi Q., Kassner E. G. Triphalangeal thumb. J Med Genet. 1988 Aug;25(8):505–520. doi: 10.1136/jmg.25.8.505. [DOI] [PMC free article] [PubMed] [Google Scholar]

