Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

被引：24

作者：

Guichet, A

Triau, S

Lépinard, C

Esculapavit, C

Biquard, F

Descamps, P

Encha-Razavi, F

Bonneau, D

机构：

[1] CHU Angers, Serv Genet Med, F-49033 Angers, France

[2] CHU Angers, Anat Pathol Lab, F-49033 Angers, France

[3] CHU Angers, Serv Gynecol Obstet, F-49033 Angers, France

[4] CHU Necker Enfants Malad, Unite Pathol Foetale & Placentaire, F-75730 Paris, France

来源：

PRENATAL DIAGNOSIS | 2004年 / 24卷 / 10期

关键词：

primary anophthalmia; deletion; 3q; 26-28; SOX2; FISH;

D O I：

10.1002/pd.997

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. Copyright (C) 2004 John Wiley Sons, Ltd.

引用

页码：828 / 832

页数：5

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