Volume 27, Issue 5 pp. 510-514
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A folate sensitive heritable fragile site at 19p13

Niels Tommerup

Niels Tommerup

The John F. Kennedy Institute, Department of Medical Genetics, Glostrup

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Johannes Nielsen

Johannes Nielsen

The Cytogenetic Laboratory, Århus Psychiatric Hospital, Denmark

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Margareta Mikkelsen1

Margareta Mikkelsen1

The John F. Kennedy Institute, Department of Medical Genetics, Glostrup

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First published: May 1985
Citations: 9

Abstract

A fragile site at 19pl3 was found in the mother of a newborn girl with Downs syndrome. The fragile site was expressed in medium containing low folate and by addition of FdU, whereas high folate, thymidine and thymidine-analogues inhibited the expression. This fragile site may prove valuable for linkage studies on chromosome 19.

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