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首页> 外文期刊>Case Reports in Genetics >Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes
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Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

机译：胎儿囊肿性湿疹的产前诊断与FOXF1和FOXC2基因的单倍缺乏有关的16q24.1缺失

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We report the prenatal diagnosis of cystic hygroma that was subsequently identified to have haploinsufficiency of the FOXF1 and FOXC2 genes via array comparative genomic hybridization (aCGH). Deletion o f these genes has previously neither been associated with cystic hygroma nor prenatally diagnosed. The FOX gene cluster is involved in cardiopulmonary development. This case expands the phenotypic spectrum o f abnormalities of the FOXF1 and FOXC2 genes, as it seems within the spectrum of function that disruption of the FOX gene cluster would lead to include abnormalities of prenatal onset. Identification of this association would not be possible with conventional karyotype or targeted aCGH. This case highlights the power of whole genomic aCGH to further delineate the etiology of birth defects.
机译：我们报告了囊性湿疹的产前诊断，其随后通过阵列比较基因组杂交（aCGH）被确定具有FOXF1和FOXC2基因的单倍型不足。这些基因的缺失以前既没有与囊性湿疹相关，也没有产前诊断。 FOX基因簇参与心肺发育。这种情况扩大了FOXF1和FOXC2基因异常的表型谱，因为在功能谱中，FOX基因簇的破坏似乎会导致产前发作的异常。常规核型或靶向aCGH无法鉴定这种关联。该病例突出了整个基因组aCGH进一步描述出生缺陷病因的能力。

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