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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

10/01/2013

Volume

512

Pages

532 - 535

Keywords

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