Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation.
Am J Med Genet
; 70(3): 324-7, 1997 Jun 13.
Article
en En
| MEDLINE
| ID: mdl-9188674
We report on the clinical and cytogenetic findings in a 9-year-old boy with a de novo deletion of 2q, shown by molecular analysis to have arisen from the paternal chromosome. Examination of microsatellite markers indicated deletion of bands 2q24.3 and 2q31. Clinical findings included craniosynostosis, bilateral ocular colobomata, and limb abnormalities, the latter being an emerging association with deletion of this region of 2q.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 2
/
Coloboma
/
Deleción Cromosómica
/
Deformidades Congénitas de las Extremidades
/
Craneosinostosis
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Año:
1997
Tipo del documento:
Article
País de afiliación:
Reino Unido
Pais de publicación:
Estados Unidos