Wolf-Hirschhorn syndrome is a well-known clinical entity caused by a terminal deletion of the short arm of chromosome 4 (4p-). The diagnosis is usually made in childhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures. Epilepsy is a major medical complication during the first years of life, with seizures typically being frequent, although they tend to improve or cease with age. We report on a woman diagnosed with WHS in her thirties by array-CGH. She presents with milder dysmorphic features, recognized by stereophotogrammetry and seizures persistent in adulthood.

Original publication

DOI

10.1016/j.gene.2012.09.108

Type

Journal article

Journal

Gene

Publication Date

01/2013

Volume

512

Pages

532 - 535

Addresses

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK.

Keywords

Chromosomes, Human, Pair 4, Humans, Chromosome Deletion, Oligonucleotide Array Sequence Analysis, Adult, Infant, Newborn, Female, Wolf-Hirschhorn Syndrome