Work

Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato

Year: 2009

Type: article

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.

Source: Arquivos Brasileiros de Cardiologia

DOI: 10.1590/s0066-782x2009000500016

Authors: Sintia Iole Nogueira Belangero, Fernanda Teixeira da Silva Bellucco, Mirlene C. S. P. Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

Institutions: Universidade Federal de São Paulo, Children's Hospital of Philadelphia, University of Pennsylvania

Language: Portuguese

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond