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Journal of Medical Genetics 1991;28:497-498; doi:10.1136/jmg.28.7.497
Copyright © 1991 by the BMJ Publishing Group Ltd.

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

M M Lai, J D Spencer, J A Montandon, A C Berry

SF Thames Regional Genetics Centre, Guy's Hospital, London.

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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