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Interrupted Aortic Arch Type B in A Patient with Cat Eye Syndrome

We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segme...

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主要な著者: Belangero, Sintia Iole Nogueira, Bellucco, Fernanda Teixeira da Silva, Cernach, Mirlene C. S. P., Hacker, April M., Emanuel, Beverly S., Melaragno, Maria Isabel
フォーマット: Artigo
言語:Inglês
出版事項: 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2814778/
https://ncbi.nlm.nih.gov/pubmed/19629279
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