Congenital Diaphragmatic Hernia in Smith-Magenis Syndrome: A Possible Locus at Chromosome 17p11.2
Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, California 94143-0748, USA.American Journal of Medical Genetics Part A (Impact Factor: 2.16). 11/2011; 155A(11):2816-20. DOI: 10.1002/ajmg.a.34247
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.
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- "[Kantarci et al., 2010], 2p16.3 [Bermudez-Wagner et al., 2013], 17q12 [Hendrix et al., 2012], 17p11.2 [Sanford et al., 2011], and duplications of Xq12q13.1 [Petit et al., 2011]. The identification of CNVs in CDH has two important potential benefits. "
ABSTRACT: Chromosomal abnormalities are an important factor in the pathogenesis of congenital diaphragmatic hernia (CDH), a relatively common congenital defect associated with high morbidity and mortality. The adoption of array-based platforms for chromosome analysis has resulted in the identification of numerous copy number variants (CNVs) in infants with CDH, highlighting the potential pathogenic role of many novel genes. We identified a retrospective cohort of 28 infants treated for CDH at a single institution who had microarray testing to determine the proportion of microarray abnormalities and whether these were contributory to CDH pathogenesis. Eight patients (29%) had microarray abnormality. Seven (25%) were considered likely contributory to CDH pathogenesis, including two mosaic trisomy 9s, a 9q22.31q22.32 microduplication, two atypical 22q11.21 microdeletions, a 2q35q36.1 microdeletion, and a 15q11.2 microdeletion, offering insights into the genetic mechanisms underlying CDH development. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
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ABSTRACT: Osteogenesis imperfecta and congenital diaphragmatic hernia are both conditions that can occur due to genetic mutation. We present the first case to be reported of a child with both osteogenesis imperfecta and congenital diaphragmatic hernias, showing that the incidence of this presentation may be more than chance.
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