Phenotypic Variations in Wolfhirschhorn Syndrome

Abstract

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seizures and midline defects in the brain, heart, palate and genitalia. Recently-used molecular techniques increase the number of diagnosed cases due to the detection of smaller deletions. The severity of the clinical presentation is variable depending on the haploinsufficiency of genes in a deleted region.

Keywords

• wolf-hirschhorn syndrome (whs)
• phenotype
• microdeletion syndromes
• fluorescent in situ hybridization (fish)