De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis
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- 作者：Eva Maria Christina Schwaibold (8)
Iris Bartels (8)
Helmut Küster (9)
Michael Lorenz (10)
Peter Burfeind (8)
Ronja Adam (11) (8)
Barbara Zoll (8) - 关键词：16p duplication ; 16p dup ; 16p whole arm duplication ; Chromosome 16 ; Duplication of short arm of chromosome 16 ; Neonatal hemochromatosis ; Iron overload ; Neonatal liver failure
- 刊名：Molecular Cytogenetics
- 出版年：2014
- 出版时间：December 2014
- 年：2014
- 卷：7
- 期：1
- 全文大小：360 KB
- 作者单位：Eva Maria Christina Schwaibold (8)
Iris Bartels (8)
Helmut Küster (9)
Michael Lorenz (10)
Peter Burfeind (8)
Ronja Adam (11) (8)
Barbara Zoll (8)
8. Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073, G?ttingen, Germany
9. Department of Pediatric Cardiology and Intensive Care Medicine, Georg August University, Robert-Koch-Str. 40, 37075, G?ttingen, Germany
10. Department of Pediatric Surgery, Georg August University, Robert-Koch-Str. 40, 37075, G?ttingen, Germany
11. Institute of Human Genetics, University of Bonn, Sigmund-Freud-Stra?e 25, 53127, Bonn, Germany - ISSN：1755-8166
文摘
Reported cases of “pure-duplication of the entire short arm of chromosome 16 (16p) are rare, with only 7 patients described in the literature. We report on a female infant with de novo 16p duplication localized to the short arm of chromosome 6, detected by chromosomal analysis and characterized by array CGH and fluorescence in situ hybridization. This baby girl presented with clinical symptoms characteristic of patients with duplications of the short arm of chromosome 16: psychomotor retardation, constitutional growth delay and specific dysmorphic features, including proximally placed hypoplastic thumbs. In addition, she exhibited evidence of neonatal hemochromatosis as shown by direct hyperbilirubinemia, iron overload and elevated liver enzyme levels. To our knowledge, this is the first report of signs of neonatal hemochromatosis in a patient with 16p duplication.