Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q.
Am J Med Genet
; 85(4): 409-12, 1999 Aug 06.
Article
en En
| MEDLINE
| ID: mdl-10398269
We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. An 8-year-old boy with TRPS II with bilateral tibial hemimelia was reported by Turleau et al. [1982: Hum. Genet. 62:183-187]. The critical region for TRPS II is 8q24.1. Although no genes involving limb development in the human have been identified in this region, two mouse syndromes are localized to the homologous chromosome region of 9A1-A4 which involve limb abnormalities. We propose that a gene involved in limb development is contiguous with the TRPS II gene which, when deleted, may cause tibial hemimelia.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tibia
/
Cromosomas Humanos Par 8
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Síndrome de Langer-Giedion
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Eliminación de Gen
/
Ectromelia
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1999
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos