Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.
Prenat Diagn
; 24(10): 828-32, 2004 Oct.
Article
in 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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 3
/
Nuclear Proteins
/
Anophthalmos
/
Chromosome Deletion
/
DNA-Binding Proteins
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Prenat Diagn
Year:
2004
Document type:
Article
Affiliation country:
Francia