Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.
Hum Genet
; 74(2): 178-80, 1986 Oct.
Article
en En
| MEDLINE
| ID: mdl-2876948
The thyroglobulin gene has been mapped to chromosome band 8q24 by several investigators. This is the band implicated in the causation of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome II). We have examined a restriction fragment length polymorphism at the thyroglobulin locus in a patient with Langer-Giedion syndrome and 8q deletion in order to: (1) localize the Langer-Giedion deletion more precisely, (2) define the relative map positions of the thyroglobulin gene and the Langer-Giedion locus. The results indicate that the locus of the thyroglobulin gene is intact in the patient with an interstitial deletion of proximal band 8q24.1 which confirms its more distal localization reported earlier by Bergé-Lefranc et al. (1985). It also assigns the critical region for the causation of Langer-Giedion syndrome to the proximal part of band 8q24, viz. 8q24.11----q24.13.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tiroglobulina
/
Cromosomas Humanos Par 8
/
Exostosis Múltiple Hereditaria
/
Mapeo Cromosómico
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Año:
1986
Tipo del documento:
Article
Pais de publicación:
Alemania