De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
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.
Hersh
J H
JH
Department of Pediatrics, University of Louisville, Kentucky 40202, USA.
Yen
F F
FF
Peiper
S C
SC
Barch
M J
MJ
Yacoub
O A
OA
Voss
D H
DH
Roberts
J L
JL
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