Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2

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...

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Veröffentlicht in:	American journal of medical genetics. Part A 2011-11, Vol.155 (11), p.2816-2820
Hauptverfasser:	Sanford, E.F., Bermudez‐Wagner, K., Jeng, L.J.B., Rauen, K.A., Slavotinek, Anne M.
Format:	Artikel
Sprache:	eng
Schlagworte:	17p11.2 Biological and medical sciences Canals chromosome 17 Chromosome Deletion Chromosome translocations Chromosomes, Human, Pair 17 - genetics Comparative Genomic Hybridization Complex syndromes congenital diaphragmatic hernia contiguous gene deletion Female genomics Heart Hernia Hernia, Diaphragmatic - genetics Hernia, Diaphragmatic - pathology Hernias, Diaphragmatic, Congenital Heterozygote Humans Infant Infant, Newborn Inversion Medical genetics Medical sciences Mitral valve Mitral Valve - abnormalities Physical Examination Polymorphism, Single Nucleotide RAI1 gene Smith-Magenis Syndrome - genetics Smith-Magenis Syndrome - pathology smith–magenis Transcription Factors - genetics Ubiquitin - genetics
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