Genetic etiology and phenotypic characteristics of fetuses with 11q deletion (11q23.3-q25) syndrome

To investigate the clinical phenotype, genetic etiology, and diagnosis of 11q deletion (11q-) syndrome. The differences and severity of fetal phenotypes may depend on the types and quantities of functional genes contained in fragments of different sizes. In this study, pregnant women were selected from prenatal testing in Longgang Maternal and Child Health Hospital of Shenzhen. After screening for prenatal serological analysis, noninvasive prenatal genetic testing screening (NIPS), chromosome karyotype analysis, and chromosome microarray analysis (CMA), 4 pregnant women diagnosed with 11q- syndrome were selected for retrospective analysis.