DE-NOVO-1-10 BALANCED TRANSLOCATION IN AN INFANT WITH THANATOPHORIC DYSPLASIA - A CLUE TO THE LOCUS OF THE CANDIDATE GENE

Authors
HERSH JH YEN FF PEIPER SC BARCH MJ YACOUB OA VOSS DH ROBERTS JL
Citation
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
Citations number
12
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
4
Year of publication
1995
Pages
293 - 295
Database
ISI
SICI code
0022-2593(1995)32:4<293:DBTIAI>2.0.ZU;2-K
Abstract
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.