Wolf-hirschhorn Syndrome in Malaysia

Abstract

Introduction: Wolf–Hirschhorn syndrome (WHS) is rare but a well-known clinical condition due to partial deletion of the short arm of chromosome 4 (4p). It is distinguished by a distinctive facial appearance known as the “Greek warrior helmet”, impaired growth and development, intellectual incapacity and seizures. The features of WHS vary between individuals based on the size and location of the missing piece of chromosome 4. Methods: Six cases of unsuspected WHS were diagnosed from 2011 to 2020 using conventional cytogenetic and fluorescent in situ hybridization (FISH) with a WHS probe. Result: Four of them had a visible cytogenetic deletion on chromosome 4p whereas the remaining two were evaluated with fluorescent in situ hybridization (FISH) using a WHS probe. Conclusion: Conventional cytogenetic testing may yield normal findings and it does not rule out the syndrome. Targeted FISH with a WHS probe is a better option.