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 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.
Belangero
Sintia Iole Nogueira
SI
Universidade Federal de São Paulo, São Paulo, SP, Brasil. sintia.morf@epm.br
Bellucco
Fernanda Teixeira da Silva
FT
Cernach
Mirlene C S P
MC
Hacker
April M
AM
Emanuel
Beverly S
BS
Melaragno
Maria Isabel
MI
D000015:Abnormalities, Multiple / Q000235:genetics; D001013:Aorta, Thoracic / Q000002:abnormalities*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D013577:Syndrome