Prenatal evaluation of a de novo X;9 translocation.
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.
Division of Reproductive Genetics, Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan 48201, USA.
B
B
Feldman
R L
RL
Kramer
S A
SA
Ebrahim
D J
DJ
Wolff
M I
MI
Evans
D000328:Adult; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005313:Fetal Death; D051860:Fragile X Messenger Ribonucleoprotein 1; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016601:RNA-Binding Proteins; D014178:Translocation, Genetic; D014960:X Chromosome
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human