4p (wolf-hirschhorn) syndrome

Agatino Battaglia

Research output: Chapter in Book/Report/Conference proceedingChapter


The causal disease Wolf–Hirschhorn syndrome (WHS) is a multiple congenital anomalies/intellectual disability disorder due to deletion, or loss of material, of the distal portion of the short arm of chromosome 4. The hallmark is represented by prenatal and postnatal growth deficiency, the “Greek warrior helmet appearance of the nose,” deficits in neurological function (hypotonia and seizures), and variable degrees of intellectual deficits (Battaglia and Carey2000; Rauch et al. 2001; Zollino et al. 2003; Fisch et al. 2008). About 1 in 50000 individuals is diagnosed with WHS, with a female preponderance of 2 : 1 (Lurie et al. 1980). In an UK epidemiological study, a minimum birth prevalence of 1 in 95896 was found (Shannon et al. 2001). Some 75% of individuals with WHS will have a de novo isolated deletion of the short arm of chromosome 4 (Lurie et al. 1980); about 12% will have either a ring 4 chromosome, mosaicism, or a sporadic unbalanced translocation. The remaining 13% will have the 4p deletion as the result of a parental chromosome translocation. In about 85% of de novo deletions, the origin of the deleted chromosome is paternal (Tupler et al. 1992; Dallapiccola et al. 1993), whereas in almost two-thirds of the translocations, the mother carries the rearrangement (Bauer et al. 1985). When an unbalanced translocation is identified, the parents are at increased risk of having another child with a chromosome abnormality (WHS or 4p trisomy with monosomy of the other involved chromosome, depending on the malsegregation of derivative chromosomes).

Original languageEnglish
Title of host publicationThe Causes of Epilepsy: Common and Uncommon Causes in Adults and Children
PublisherCambridge University Press
Number of pages4
ISBN (Print)9780511921001, 9780521114479
Publication statusPublished - Jan 1 2011

ASJC Scopus subject areas

  • Medicine(all)


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