title: The genetics of common disorders - congenital diaphragmatic hernia.
abstract: Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. Although numerous chromosomal aberrations and gene mutations have been associated with CDH, the etiology of the diaphragmatic defect is identified in less than 50% of patients. This review discusses the some of the more frequent, recurrent karyotypic abnormalities in which CDH is a feature, including 15q26, 8p23.1 and 4p16.3 deletions and tetrasomy 12p (Pallister-Killian syndrome), together with some of the syndromes in which CDH is a relatively common feature, including Fryns syndrome, Matthew-Wood syndrome, overgrowth syndromes and Donnai-Barrow syndrome. In the era of genomic technologies, our knowledge of the genes and chromosome regions involved in pathogenesis of CDH is likely to advance significantly.
authors.affiliation: Department of Pediatrics, Division of Genetics, University of California, MSC 2711, Rock Hall Room RH384D, 1550 4th St, San Francisco, CA 94143-2711, USA. Electronic address: slavotia@peds.ucsf.edu.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Slavotinek
mesh_terms: D000818:Animals; D002869:Chromosome Aberrations; D065630:Hernias, Diaphragmatic, Congenital / Q000139:chemically induced / Q000235:genetics*; D006801:Humans; D013723:Teratogens / Q000633:toxicity
chemical_list: D013723:Teratogens
keywords: 15q26 deletion syndrome; Congenital diaphragmatic hernia; Fryns syndrome