Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/1622
Title: Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family
Authors: BELANGERO, S. I.PACANARO, A. N. X.BELLUCCO, F. T.CHRISTOFOLINI, D. M.KULIKOWSKI, L. D.GUILHERME, R. S.BORTOLAI, A.DUTRA, A. R. N.PIAZZON, F. B.CERNACH, M. C.MELARAGNO, M. I.
Citation: CYTOGENETIC AND GENOME RESEARCH, v.138, n.1, p.5-10, 2012
Abstract: A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter -> q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling.
Appears in Collections:

Artigos e Materiais de Revistas Científicas - LIM/03
LIM/03 - Laboratório de Medicina Laboratorial


Files in This Item:
File Description SizeFormat 
art_KULIKOWSKI_Wide_Clinical_Variability_in_Cat_Eye_Syndrome_Patients_2012.PDF
  Restricted Access
publishedVersion (English)636.62 kBAdobe PDFView/Open Request a copy

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.