Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

Author Belangero, S. I. Autor UNIFESP Google Scholar
Pacanaro, Ade Nubia Xavier Autor UNIFESP Google Scholar
Bellucco, F. T. Google Scholar
Christofolini, D. M. Google Scholar
Kulikowski, L. D. Google Scholar
Guilherme, R. S. Google Scholar
Bortolai, A. Google Scholar
Dutra, A. R. N. Google Scholar
Piazzon, F. B. Google Scholar
Cernach, M. C. Google Scholar
Melaragno, M. I. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Hosp Servidor Publ Estado São Paulo
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. Copyright (C) 2012 S. Karger AG, Basel
Keywords Cat eye syndrome
Chromosome 22
Marker chromosome
Small supernumerary marker chromosome
Language English
Date 2012-01-01
Published in Cytogenetic and Genome Research. Basel: Karger, v. 138, n. 1, p. 5-10, 2012.
ISSN 1424-8581 (Sherpa/Romeo, impact factor)
Publisher Karger
Extent 5-10
Origin http://dx.doi.org/10.1159/000341570
Access rights Closed access
Type Article
Web of Science ID WOS:000308976400002
URI http://repositorio.unifesp.br/handle/11600/34503

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