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Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients
Author(s) -
BobabillaMorales Lucina,
CoronaRivera Alfredo,
CoronaRivera J. Román,
Buenrostro C.,
GarcíaCobián Teresa A.,
CoronaRivera Enrique,
CantúGarza José María,
GarcíaCruz Diana
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20341
Subject(s) - microcephaly , short stature , chromosome instability , chromosome , chromatid , sister chromatids , chromosomal fragile site , biology , karyotype , mitomycin c , genetics , medicine , pediatrics , endocrinology , gene
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.