Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/40046
Title: Chromosome Instability Induced in Vitro with Mitomycin C in Five Seckel Syndrome Patients
Author: Bobabilla-Morales, L.
Corona-Rivera, A.
Corona-Rivera, J.R.
Buenrostro, C.
Garcia-Cobian, T.A.
Corona-Rivera, E.
Cantu-Garza, J.M.
Garcia-Cruz, D.
Issue Date: 2003
Abstract: Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, microcephaly, typical facial appearance with beak-like protrusion, and severe mental retardation. A heterogeneous basis for SS was proposed since around 25% of SS patients have hematological anomalies, suggesting a subgroup of SS with chromosome instability and hematological disorders. Chromosome instability induced by mitomycin C (MMC) has been observed in previous reports. The purpose of this study is to report cytogenetic features in five patients with SS. The patients had low birth weight (mean 1,870 g), short stature (SD = 6.36), microcephaly (OFC, SD = 8.1), typical facial appearance, and multiple articular dislocations. None of them had anemia at the time of examination. In all cases their parents were healthy and non-consanguineous. Lymphocytes of SS patients and a control group (n = 9) matched by age and sex were cultured with and without MMC, and harvested at 72 and 96 hr. Chromosomal aberrations (chromatid and chromosomal gaps and breaks, deletions, fragments, and exchanges) were scored in 100 metaphases per culture. A statistical increase of chromosomal aberrations was observed in 96 hr MMC cultures in all patients (40.2% vs. 2.8%). Sister chromatid exchanges were also performed with no differences between groups. Clinical and cytogenetic findings support the idea that SS may correspond to a chromosome instability syndrome. � 2003 Wiley-Liss, Inc.
URI: http://www.scopus.com/inward/record.url?eid=2-s2.0-0242678554&partnerID=40&md5=f964bf3cab6c7d1a4c26f30554f62f36
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=med4&AN=14598338
http://hdl.handle.net/20.500.12104/40046
Appears in Collections:Producción científica UdeG

Files in This Item:
There are no files associated with this item.


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