Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients

Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients

Author Kavamura, Maria Ines Autor UNIFESP Google Scholar
Zollino, M. Google Scholar
Lecce, R. Google Scholar
Murdolo, M. Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Alchorne, Maurício Mota de Avelar Autor UNIFESP Google Scholar
Opitz, J. M. Google Scholar
Neri, G. Google Scholar
Institution Univ Utah
Universidade Federal de São Paulo (UNIFESP)
Univ Cattolica Sacro Cuore
Abstract Recent publications described two patients with a CFC-like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000,2002]. the patients did not have the classical CFC phenotype and presented other signs not usually seen in CFC patients: the first patient had hydrocephalus, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases. in order to verify if classic CFC patients with normal chromosomes in conventional preparations have microdeletions within the 12q21.2q22 chromosome region, we performed FISH analysis using 12 BAC probes to screen this area. the average interval between the probes was of approximately 1 Mb. No deletions were found in any of the 17 classical CFC patients we examined. We conclude that the region 12q21.2q22 is not a candidate region for CFC syndrome and that the patients described by Rauen et al. [2000, 2002] probably have a different condition, i.e., an aneuploidy syndrome, with some phenotypic resemblance to the CFC syndrome. To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements. (C) 2003 Wiley-Liss, Inc.
Keywords cardiofaciocutaneous syndrome
CFC syndrome
chromosome 12
subtelomeric regions
Language English
Date 2003-06-01
Published in American Journal of Medical Genetics Part A. New York: Wiley-liss, v. 119A, n. 2, p. 177-179, 2003.
ISSN 0148-7299 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 177-179
Origin http://dx.doi.org/10.1002/ajmg.a.10198
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000182930600014
URI http://repositorio.unifesp.br/handle/11600/27258

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