Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches.

We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showed the absence of 13qter and the presence of 13q14.3 in the cells with r(13), and chromosome microarray analysis detected a 15.39 Mb deletion in chromosome region 13q32.3-q34. This study is intended as the registry of a rare case of chromosomal rearrangement involving chromosome 13 in Central Brazil. Further studies are needed to define whether genetic haploinsufficiency is associated with each major 13q deletion anomaly.

[The microhemagglutination reaction for the routine serologic diagnosis of syphilis]. / A reação de microhemaglutinação para sífilis no diagnóstico sorológico de rotina.

The authors present the results of VDRL reactions (qualitative and quantitative) and microhaemagglutination assays (MIPHA) on 305 serum samples. The samples selected among the sera asked for syphilis serology at a clinical laboratory, were those which the results on VDRL reactions were observed to be reactive at low titles, not reactive or inconclusive. From these 305 samples, 87 (28.5 por 100) were also processed by the FTA-Abs test. The reactivity concordance between the tests was compared and the efficiency of the MIPHA as confirmatory diagnostic test was discussed. The conclusions prompt to the usefulness of the MIPHA on syphilis serodiagnosis routine as a function of its sensitivity, specificity, low costs and technical simplicity.