Prenatal diagnosis of Wolf-Hirschhorn syndrome: a case report

Abstract

This study reported a case of fetal developmental retardation indicated by ultrasound from 17+2 to 34+5 gestations. Single nucleotide polymorphism (SNP) array was performed to detect the copy number variation in the whole genome for the fetus and parents. A 2.42 Mb deletion at 4p16.3 was found in the fetus, but in neither parents, which suggesting a de novo mutation. Thus, the fetus was finally diagnosed with Wolf-Hirschhorn syndrome. No obvious 'Greek warrior helmet' appearance or other facial deformity was observed in the delivered fetus. Key words: Wolf-Hirschhorn syndrome; Ultrasonography, prenatal; Fetal growth retardation; Loss of heterozygosity; DNA copy number variations