title: Deletion and duplication of 11p13-11p14: reciprocal aberrations derived from a paternal insertion.
abstract: More than 100 cases of deletions that span 11p13-11p14 resulting in WAGR syndrome have been reported in the literature. In contrast, reports of duplications spanning this region are extremely rare. We here report on a deletion of 11p13-11p14 identified in a neonate with severe congenital anomalies including genitourinary abnormalities and aniridia, and the reciprocal duplication identified in his healthy older sibling. Both were derived from a paternal balanced insertion of the 11p region into 18q. The deletion and duplication were characterized by G-banding, FISH and array CGH, and are estimated to include approximately 5.5-5.8 Mb. This single family report highlights the mild phenotypes that can be associated with duplications of chromosomal regions, even those that are larger than 5 Mb and harbor known disease-related genes, and highlights the impact of identifying balanced carrier status in a parent for accurate genetic counseling.
authors.affiliation: Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA. dolan009@umn.edu
authors.forename: Michelle
authors.initials: M
authors.lastname: Dolan
authors.forename: Susan A
authors.initials: SA
authors.lastname: Berry
authors.forename: Karol R
authors.initials: KR
authors.lastname: Rubin
authors.forename: Betsy
authors.initials: B
authors.lastname: Hirsch
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D005820:Genetic Testing; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D040582:Inheritance Patterns; D008297:Male; D008677:Metaphase; D010375:Pedigree; D010641:Phenotype; D010808:Physical Examination