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Agnès Guichet Stéphane Triau Catherine Lépinard Chantal Esculapavit Florence Biquard Philippe Descamps Férechté Encha-Razavi Dominique Bonneau 《黑龙江环境通报》2004,24(10):828-832
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 © 2004 John Wiley & Sons, Ltd. 相似文献
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Hanane Bouchghoul Chloé Quelin Philippe Loget Féréchté Encha-Razavi Marie-Victoire Senat Lorraine Maheut Julie Galimand Sophie Collardeau-Frachon Lydie Da Costa Jelena Martinovic 《黑龙江环境通报》2018,38(10):772-778
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present. 相似文献
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