Prenatal Diagnosis of 8p23 Deletion Syndrome by Single Nucleotide Polymorphism Microarray

Abstract

8p23 deletion syndrome is characterized by congenital heart disease, diaphragmatic hernia, growth restriction, microcephaly, intellectual disability, behavioral problems, and abnormal genitalia. Prenatal findings are generally related to abnormal ultrasound findings and few cases have been reported in the literature. We present the prenatal diagnosis of 8p23 deletion syndrome with sonographic features of fetal growth restriction, short long bones, increased right ventricular wall thickness and small ventricular dimensions without an obvious structural fetal heart anomaly. The deletion size of the present case was one of the largest reported prenatally with a 10.8 MB deletion in the 8p23.3p23.1 region that did not include the critical GATA4 gene. The large deletion in our case included the SOX7, Tankyrase 1 (TNKS) and Microcephalin 1 (MCPH 1) genes. We assume that classical phenotypic features of micrognathia, low-set ears, flat and broad nasal bridge that we observed in our case may be due to these deletions. Microarray analysis of the chromosomes should be performed to diagnose chromosome aberrations such as 8p23 deletion syndrome in obscure ultrasonographic findings prenatally.