Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations. Issue 10 (October 1992)

• Record Type: Journal Article
• Authors: Tarleton, J; Wong, S; Heitz, D; Schwartz, C
• Is Part Of: Journal of medical genetics. Volume 29:Issue 10(1992)
• Page Start: 726
• Page End: 729
• Publication Date: 1992-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.29.10.726
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Genetic recombination near the fragile X locus (Xq27.3) has frequently been a problem in linkage studies of families in which the fragile X is segregating. This case report illustrates the resolution of a difficult situation in a fragile X family for whom cytogenetic studies were inconclusive and where recombination had twice confounded attempts at prenatal DNA diagnosis by RFLP analysis. Using a newly developed DNA probe, StB12.3, for direct detection of DNA instability in the fragile X locus, the presence of the fragile X was ascertained definitively in a prenatal DNA sample.