title: De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
abstract: A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia.
authors.affiliation: Department of Pediatrics, University of Louisville, Kentucky 40202, USA.
authors.forename: J H
authors.initials: JH
authors.lastname: Hersh
authors.forename: F F
authors.initials: FF
authors.lastname: Yen
authors.forename: S C
authors.initials: SC
authors.lastname: Peiper
authors.forename: M J
authors.initials: MJ
authors.lastname: Barch
authors.forename: O A
authors.initials: OA
authors.lastname: Yacoub
authors.forename: D H
authors.initials: DH
authors.lastname: Voss
authors.forename: J L
authors.initials: JL
authors.lastname: Roberts
mesh_terms: D000328:Adult; D002871:Chromosome Banding / Q000379:methods; D002878:Chromosomes, Human, Pair 1; D002879:Chromosomes, Human, Pair 10; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D013796:Thanatophoric Dysplasia / Q000235:genetics*; D014178:Translocation, Genetic