title: Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
abstract: We present a three generation family in which a father and son have a balanced chromosome translocation between the short arms of chromosomes 5 and 11 (karyotype 46,XY,t(5;11)(p15.3;p15.3)). Two family members have inherited the unbalanced products of this translocation and are trisomic for chromosome 11p15.3-->pter and monosomic for chromosome 5p15.3-->pter (karyotype 46,XY,der(5)t(5;11)(p15.3;p15.3)pat). Paternally derived duplications of 11p15.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for 11p15.5 had prenatal overgrowth (birth weights >97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of BWS patients who have a paternally derived duplication of 11p15.5 and provide evidence for a distinct pattern of dysmorphic features in those with this chromosome duplication. Interestingly, our family is the fifth unrelated family to be reported with a balanced reciprocal translocation between the short arms of chromosomes 5 and 11. The apparently non-random nature of this particular chromosome translocation is suggestive of sequence homology between the two chromosome regions involved in the translocation.
authors.affiliation: Department of Clinical Genetics, St Mary's Hospital, Manchester, UK.
authors.forename: A
authors.initials: A
authors.lastname: Slavotinek
authors.forename: L
authors.initials: L
authors.lastname: Gaunt
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000293:Adolescent; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics* / Q000503:physiopathology; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D005220:Fathers; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D010375:Pedigree; D014178:Translocation, Genetic