title: Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.
abstract: We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia.
authors.affiliation: Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, California 94143-0748, USA.
authors.forename: E F
authors.initials: EF
authors.lastname: Sanford
authors.forename: K
authors.initials: K
authors.lastname: Bermudez-Wagner
authors.forename: L J B
authors.initials: LJ
authors.lastname: Jeng
authors.forename: K A
authors.initials: KA
authors.lastname: Rauen
authors.forename: Anne M
authors.initials: AM
authors.lastname: Slavotinek
mesh_terms: D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics / Q000473:pathology; D065630:Hernias, Diaphragmatic, Congenital; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008943:Mitral Valve / Q000002:abnormalities; D010808:Physical Examination; D020641:Polymorphism, Single Nucleotide; D058496:Smith-Magenis Syndrome / Q000235:genetics* / Q000473:pathology; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics; D025801:Ubiquitin / Q000235:genetics
chemical_list: C431552:RAI1 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; C479419:UBB protein, human; D025801:Ubiquitin