De novo inv del(4) in an infant with the Wolf-Hirschhorn syndrome.
An infant was found to have a de novo complex rearrangement of one chromosome 4. Her karyotype was interpreted as 46,XX,inv del(4)(pter::p16.3::q31.2----p15.2::q31.2----qter). Clinically she showed the features of the Wolf-Hirschhorn syndrome.
D002869:Chromosome Aberrations / Q000503:physiopathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping