RESUMEN
A molecular cytogenetic study was performed on 48 infertile patients who were identified as carriers of balanced translocations (40 cases), inversions (6 cases) or insertions (2 cases) by means of banding cytogenetics. Cases with a Robertsonian translocation or pericentric inversion 2 or 9 were not included. In summary, 100 break-events occurred in these patients, and 90 different chromosomal regions were involved. Thus, this study confirmed the presence of abnormal karyotypes in a subgroup of patients seeking infertility treatment. Breaks were demonstrated to appear preferentially in GTG-light bands in these patients. Furthermore, the observed breakpoints were associated with genomic regions prone to instability due to the presence of segmental duplications. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.
Asunto(s)
Rotura Cromosómica , Análisis Citogenético , Infertilidad/genética , Translocación Genética , Bandeo Cromosómico , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , MasculinoRESUMEN
Cohen syndrome (CS) is an autosomal recessive disorder with variability in the clinical manifestations, characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in the gene COH1 have been found in an ethnically diverse series of patients. Brief clinical descriptions of 24 patients with CS are provided. The patients were from 16 families of different ethnic backgrounds and between 2.5 and 60 years of age at assessment. DNA samples from all patients were analysed for mutations in COH1 by direct sequencing. Splice site mutations were characterised using reverse transcriptase PCR analysis from total RNA samples. In this series, we detected 25 different COH1 mutations; 19 of these were novel, including 9 nonsense mutations, 8 frameshift mutations, 4 verified splice site mutations, 3 larger in frame deletions, and 1 missense mutation. We observed marked variability of developmental and growth parameters. The typical facial gestalt was seen in 23/24 patients. Early onset progressive myopia was present in all the patients older than 5 years. Widespread pigmentary retinopathy was found in 12/14 patients assessed over 5 years of age. We present evidence for extended allelic heterogeneity of CS, with the vast majority of mutations leading to premature termination codons in COH1. Our data confirm the broad clinical spectrum of CS with some patients lacking even the characteristic facial gestalt and pigmentary retinopathy at school age.
Asunto(s)
Anomalías Múltiples/diagnóstico , Discapacidad Intelectual/diagnóstico , Proteínas de la Membrana/genética , Miopía/diagnóstico , Retinitis Pigmentosa/diagnóstico , Anomalías Múltiples/genética , Adolescente , Adulto , Niño , Preescolar , Análisis Mutacional de ADN , Cara/anomalías , Femenino , Heterogeneidad Genética , Humanos , Discapacidad Intelectual/genética , Masculino , Persona de Mediana Edad , Mutación , Miopía/genética , Fenotipo , Polimorfismo de Nucleótido Simple , Retinitis Pigmentosa/genética , Síndrome , Proteínas de Transporte VesicularRESUMEN
A pneumococci-osteoarthritis in 8 children is reported on. In almost all the cases an adequate therapy (antibiotics, immobilization, physical therapy) resulted in a healing process free of defects with a full maintenance of the articular function. Besides by staphylococci and haemophilus influenzae, pneumococci too use to play a role as pathogenic organisms for osteomyelitis and arthritis.