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Prenatal evaluation of a de novo X;9 translocation
B Feldman1, R L Kramer, S A Ebrahim
1Division of Reproductive Genetics, Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan 48201, USA.
American Journal of Medical Genetics
|July 16, 1999
Abstract:
A case of X-autosome translocation was diagnosed prenatally [46,X, t(X;9)(p21.3 approximately 22.1;q22]. We describe the use of fluorescence in situ hybridization (FISH) to estimate the integrity of the Duchenne muscular dystrophy (DMD) gene. X-inactivation studies were used as well to assess the probability of phenotypic abnormalities associated with functional partial disomy X and monosomy 9.