title: Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.
abstract: We present three patients with Wolf-Hirschhorn syndrome with small cytogenetic deletions of 4p16. One case is a de novo translocation and two cases represent de novo deletions. Using molecular techniques we determined the extent of these deletions and attempted to ascertain parental origin. Case 1 had a deletion of 4p16.3 with a breakpoint proximal to D4S10, case 2 had a larger deletion including D4S62 in 4p16.2, and case 3 had the largest deletion which included D4S240, but not the Raf2 locus in 4p16.1. The parental origin of the deletion in case 3 was paternal; the other two cases were indeterminable. Our results show that these three deletions include the currently proposed Wolf-Hirschhorn syndrome critical region within the most distal 2 Mb of 4p16.3 and offer supportive evidence for continuous terminal deletions.
authors.affiliation: Department of Pediatrics, University of North Carolina at Chapel Hill.
authors.forename: L L
authors.initials: LL
authors.lastname: Estabrooks
authors.forename: A N
authors.initials: AN
authors.lastname: Lamb
authors.forename: A S
authors.initials: AS
authors.lastname: Aylsworth
authors.forename: N P
authors.initials: NP
authors.lastname: Callanan
authors.forename: K W
authors.initials: KW
authors.lastname: Rao
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006257:Head / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010290:Parents; D013577:Syndrome; D014178:Translocation, Genetic