title: Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.
abstract: Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism; hirsutism; internal organ anomalies, including diaphragmatic hernia, and limb defects. While causative mutations in three genes have been identified the etiology of a significant number of cases remains unknown. We report on a child with an 8p23.1 deletion with features of CdLS and congenital diaphragmatic hernia. We review cases with cytogenetic anomalies involving 8p23.1, discuss a potential relationship between 8p23.1 deletions and CdLS and suggest a novel candidate gene for CdLS-Tankyrase 1.
authors.affiliation: Genetic Services of Western Australia, Princess Margaret Hospital for Children, School of Paediatrics and Child Health, University of WA, Perth, Australia. gareth.baynam@health.wa.gov.au
authors.forename: Gareth
authors.initials: G
authors.lastname: Baynam
authors.forename: Jack
authors.initials: J
authors.lastname: Goldblatt
authors.forename: Ian
authors.initials: I
authors.lastname: Walpole
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006548:Hernia, Diaphragmatic / Q000175:diagnosis* / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D038501:Tankyrases / Q000235:genetics*
chemical_list: D038501:Tankyrases; C418109:TNKS protein, human