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Interrupted aortic arch type B in A patient with cat eye syndrome.

ABSTRACT: 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 segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an interrupted aortic arch type B is unusual in CES, although it is a frequent heart defect in the 22q11 deletion syndrome.

SUBMITTER: Belangero SI

PROVIDER: S-EPMC2814778 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature

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Interrupted aortic arch type B in A patient with cat eye syndrome.

Belangero Sintia Iole Nogueira SI Bellucco Fernanda Teixeira da Silva FT Cernach Mirlene C S P MC Hacker April M AM Emanuel Beverly S BS Melaragno Maria Isabel MI

Arquivos brasileiros de cardiologia 20090501 5

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 segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an inter ...[more]

PMID: 19629279

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