Genetic analysis, ultrasound phenotype, and pregnancy outcome of fetuses with Xp22.33 or Yp11.32 microdeletion

The phenotypes of Xp22.33 or Yp11.32 microdeletions containing short-stature homeobox (SHOX) gene have been extensively described in adults and children, however, few have been reported in prenatal fetuses. We analyzed the prenatal ultrasound phenotype and pregnancy outcomes of fetuses with Xp22.33 or Yp11.32 microdeletion containing SHOX gene to improve the understanding, diagnosis, and monitoring of the disease in the fetal period. Chromosomal analysis and chromosomal microarray analysis (CMA) were performed

搜集汇总

背景与挑战

背景概述

该数据集利用SNP阵列（Affymetrix CytoScan 750K Array）对胎儿样本进行基因组变异分析，重点研究Xp22.33或Yp11.32微缺失（包含SHOX基因）的产前超声表型和妊娠结局。通过染色体分析和染色体微阵列分析（CMA）检测5例胎儿样本（脐带血和羊水细胞），旨在提高对该疾病胎儿期的认识、诊断和监测。