Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.
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.
Bobabilla-Morales
Lucina
L
Laboratorio de Genética Humana, Departamento de Fisiología, División de Disciplinas Básicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada #950 S.L., CP 44340, Guadalajara, Jalisco, México. lucinabo@cucs.udg.mx
Corona-Rivera
Alfredo
A
Corona-Rivera
J Román
JR
Buenrostro
C
C
García-Cobián
Teresa A
TA
Corona-Rivera
Enrique
E
Cantú-Garza
José María
JM
García-Cruz
Diana
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D043171:Chromosomal Instability / Q000187:drug effects*; D020732:Cytogenetic Analysis; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D016685:Mitomycin / Q000494:pharmacology*; D013577:Syndrome; D013997:Time Factors
D016685:Mitomycin