Journal article
An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis
Abstract
One hundred and three individuals in 11 unrelated families with the fragile-X [fra(X)] syndrome were tested for polymorphisms identified by probes flanking the fra(X) site at Xq27.3. Two probes distal and 2 proximal to the fra(X) site were used. Thirteen known female carriers were analyzed retrospectively. DNA markers gave probabilities of carrying the mutation of 99% in 1 female, 89% in 8 females, and 10-55% in the other 4 females. We also …
Authors
Forster‐Gibson CJ; Mulligan LM; Simpson NE; White BN; Holden JJA; Opitz JM; Reynolds JF
Journal
American Journal of Medical Genetics, Vol. 23, No. 1‐2, pp. 665–683
Publisher
Wiley
Publication Date
January 1986
DOI
10.1002/ajmg.1320230159
ISSN
0148-7299