Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.
Prenat Diagn
; 24(10): 828-32, 2004 Oct.
Article
en En
| MEDLINE
| ID: mdl-15503273
ABSTRACT
We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia.
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Bases de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Cromosomas Humanos Par 3
/
Proteínas Nucleares
/
Anoftalmos
/
Deleción Cromosómica
/
Proteínas de Unión al ADN
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Año:
2004
Tipo del documento:
Article
País de afiliación:
Francia