Comparative Genomic Hybridization (CGH) for Prenatal Diagnosis of Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn Syndrome (WHS) is a rare genetic condition caused by partial deletion of the short arm of chromosome 4 (4p-). Variability in 4p deletions and rearrangements leads to a wide spectrum of clinical manifestations of this disease. Most prenatal WHS diagnoses are associated with large 4p deletions identified by conventional cytogenetic techniques; however some submicroscopic deletions can only be diagnosed using molecular techniques. In this case report, a combined diagnostic approach based on conventional karyotyping and comparative genomic hybridization (CGH) offered a quick and definitive result to allow accurate prognoses and genetic counseling of WHS for the family.