Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.
Year: 1992
Type: article
Study design: Case Report
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.
Source: Journal of Medical Genetics
Authors: J Tarleton, S Wong, D Heitz, C Schwartz
Institution: Greenwood Genetic Center
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2156808919