Jh. Hersh et al., DE-NOVO-1-10 BALANCED TRANSLOCATION IN AN INFANT WITH THANATOPHORIC DYSPLASIA - A CLUE TO THE LOCUS OF THE CANDIDATE GENE, Journal of Medical Genetics, 32(4), 1995, pp. 293-295
A female infant with thanatophoric dysplasia was found to have a de no
vo translocation involving chromosomes I and 10. The chromosome abnorm
ality may represent an important clue in identifying the locus for the
candidate gene responsible for this lethal skeletal dysplasia.