对一名4p15.3至4pter缺失的胎儿进行基于微阵列的比较基因组杂交分析以诊断Wolf-Hirschhorn综合征
Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter.
作者信息
Chao Angel, Lee Yun-Shien, Chao An-Shine, Wang Tzu-Hao, Chang Shuenn-Dyh
机构信息
Department of Obstetrics and Gynecology, Chang-Gung Memorial Hospital, Chang Gung University, Kwei-Shan, Tao-Yuan, Taiwan.
出版信息
Birth Defects Res A Clin Mol Teratol. 2006 Oct;76(10):739-43. doi: 10.1002/bdra.20314.
BACKGROUND
Wolf-Hirschhorn syndrome (WHS), caused by the deletion of a segment in chromosome 4, is characterized by mental and developmental defects. Clinical manifestations of WHS include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously with hypotonia, typical "Greek helmet" facial appearance, cleft lip and palate, mental deficiency, and seizures.
CASE
We present a case of WHS with prenatal conventional cytogenetics of 46,XY,der(4)t(4;13)(p15.3;p11.2)pat. High-resolution mapping using microarray-based comparative genomic hybridization (array-CGH), including Affymetrix 10K arrays and cDNA microarrays, confirmed the loss of genes in the deleted region.
CONCLUSIONS
The correlation between these candidate genes and the phenotypes of WHS may expand our understanding of the defective development caused by 4p deletion.
背景
沃尔夫-赫希霍恩综合征（WHS）由4号染色体上一段片段的缺失引起，其特征为智力和发育缺陷。WHS的临床表现包括宫内生长受限、新生儿期生长发育不良并伴有肌张力低下、典型的“希腊头盔”面容、唇腭裂、智力缺陷和癫痫发作。
病例
我们报告一例WHS患者，其产前常规细胞遗传学检查结果为46，XY，der(4)t(4;13)(p15.3;p11.2)pat。使用基于微阵列的比较基因组杂交技术（阵列比较基因组杂交，array-CGH）进行高分辨率图谱分析，包括Affymetrix 10K阵列和cDNA微阵列，证实了缺失区域基因的丢失。
结论
这些候选基因与WHS表型之间的相关性可能会拓展我们对4p缺失所致发育缺陷的理解。
Zotero 插件