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. 1992 Mar;29(3):180–183. doi: 10.1136/jmg.29.3.180

Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1.

M Upadhyaya 1, A Fryer 1, J MacMillan 1, W Broadhead 1, S M Huson 1, P S Harper 1
PMCID: PMC1015893  PMID: 1348093

Abstract

A two year experience of DNA diagnosis for NF1 is presented. Twenty-three NF1 families have been analysed using 11 closely linked and intragenic markers. Prenatal testing was undertaken for six families; 11 affected subjects and their partners wished to know if they would be informative for future prenatal testing, seven of whom are so far fully informative. Presymptomatic testing was done for six subjects. Despite the availability of a series of closely linked markers, informativeness could not be achieved in all of the families tested.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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