Objectives: To characterize a ring chromosome 22 by means of molecular cytogenetics in a girl wit... more Objectives: To characterize a ring chromosome 22 by means of molecular cytogenetics in a girl with retarded neuropsychomotor development and dysmorphic features. A study carried out using fluorescent in situ hybridization (FISH) with ...
The 8;21 translocation in acute myeloid leukemia (AML) results in a consistent fusion transcript,... more The 8;21 translocation in acute myeloid leukemia (AML) results in a consistent fusion transcript, AML1/ETO. Long-term clinical remission occurs in some patients despite incomplete eradication of AML1/ETO as demonstrated by RT-PCR, thus limiting the usefulness of this assay. An important future goal will be to determine if there is a level of minimal residual disease (MRD) in patients below which relapse is unlikely. For the detection of MRD, we have developed reagents for fluorescence in situ hybridization (FISH) that identify both derivative 8 and 21 chromosomes with a high analytical sensitivity. In t(8;21) AML cells, two fused signals were detected in addition to the normal 8 and 21 alleles. The sensitivity and specificity of this probe mixture were analyzed in cell lines and patient bone marrows. One and two randomly juxtaposed signals were observed in 2.4 and 0.04% of normal cells, respectively. However, these were easily differentiated from t(8;21) cells by the absence of signals from the normal alleles. Using as criteria the presence of two fused signals plus the normal alleles, we observed no false positives among 5,000 normal cells. The probe correctly identified 20/20 patients with t(8;21) AML and 10/10 non-t(8;21) patients. In cell dilution experiments, the analytical sensitivity of this reagent was equal to that of the X chromosome and Y chromosome alpha-satellite probes. These optimized probes should facilitate the quantitative assessment and study of MRD in t(8;21) AML.
Entre as sindromes descritas no grupo das Disostoses Acrofaciais, existem dois quadros clinicos q... more Entre as sindromes descritas no grupo das Disostoses Acrofaciais, existem dois quadros clinicos que possivelmente representam entidades distintas: as sindromes de Nager e de Miller. Este trabalho relata o caso de um recem-nascido vivo do sexo masculino que apresentava uma sindrome malformativa caracterizada pela sequencia de Robin; orientacao antimongoloide das rimas palpebrais; atresia dos meatos acusticos externos; aplasia da ulna e sinostose humero-radial bilateral; 4 ossos metacarpais e 4 dedos com provavel ausencia do segundo raio digital; ausencia da fibula direita com encurtamento e encurvamento da tibia, duplicacao pielocalicial bilateral. Este caso assim como outros descritos na literatura poderiam representar novos tipos de Disostoses Acrofaciais ou pertencerem ao espectro fenotipico da Sindrome de Nager
... Débora Romeo Bertola2, Lilian Maria José Albano3, Antranik Manissadjian4, Eloísa Auler-Bitenc... more ... Débora Romeo Bertola2, Lilian Maria José Albano3, Antranik Manissadjian4, Eloísa Auler-Bitencourt5 ... A menina apresentava hipermetropia, fissura palatina posterior e manchas hipo/hipercrômicas em membros ... meses de idade mostrava peso = 7 kg (2,5<p<10), comprimento ...
We retrospectively investigated six cases of discrepancy between prenatal fetal karyotype and pos... more We retrospectively investigated six cases of discrepancy between prenatal fetal karyotype and postnatal findings. In five cases, the chromosomal abnormalities initially found by CVS or amniocentesis were not confirmed by later analyses and postnatal examination. In one case, the fetal karyotype found to be normal by CVS had to be checked due to sonographic features and clinical anomalies found after
resUMo Estudo retrospectivo de seis casos em que houve discrepância entre cariótipo pré-natal e a... more resUMo Estudo retrospectivo de seis casos em que houve discrepância entre cariótipo pré-natal e achados pós-natais. Em cinco deles as anomalias cromossômicas que foram encontradas inicialmente pela biópsia de vilosidades coriônicas ou amniocentese não foram compatíveis com resultados posteriores. Já em um caso, o cariótipo inicial normal pela biópsia de vilosidades coriônicas necessitou de novo controle devido ao aparecimento de
Objectives: To characterize a ring chromosome 22 by means of molecular cytogenetics in a girl wit... more Objectives: To characterize a ring chromosome 22 by means of molecular cytogenetics in a girl with retarded neuropsychomotor development and dysmorphic features. A study carried out using fluorescent in situ hybridization (FISH) with ...
The 8;21 translocation in acute myeloid leukemia (AML) results in a consistent fusion transcript,... more The 8;21 translocation in acute myeloid leukemia (AML) results in a consistent fusion transcript, AML1/ETO. Long-term clinical remission occurs in some patients despite incomplete eradication of AML1/ETO as demonstrated by RT-PCR, thus limiting the usefulness of this assay. An important future goal will be to determine if there is a level of minimal residual disease (MRD) in patients below which relapse is unlikely. For the detection of MRD, we have developed reagents for fluorescence in situ hybridization (FISH) that identify both derivative 8 and 21 chromosomes with a high analytical sensitivity. In t(8;21) AML cells, two fused signals were detected in addition to the normal 8 and 21 alleles. The sensitivity and specificity of this probe mixture were analyzed in cell lines and patient bone marrows. One and two randomly juxtaposed signals were observed in 2.4 and 0.04% of normal cells, respectively. However, these were easily differentiated from t(8;21) cells by the absence of signals from the normal alleles. Using as criteria the presence of two fused signals plus the normal alleles, we observed no false positives among 5,000 normal cells. The probe correctly identified 20/20 patients with t(8;21) AML and 10/10 non-t(8;21) patients. In cell dilution experiments, the analytical sensitivity of this reagent was equal to that of the X chromosome and Y chromosome alpha-satellite probes. These optimized probes should facilitate the quantitative assessment and study of MRD in t(8;21) AML.
Entre as sindromes descritas no grupo das Disostoses Acrofaciais, existem dois quadros clinicos q... more Entre as sindromes descritas no grupo das Disostoses Acrofaciais, existem dois quadros clinicos que possivelmente representam entidades distintas: as sindromes de Nager e de Miller. Este trabalho relata o caso de um recem-nascido vivo do sexo masculino que apresentava uma sindrome malformativa caracterizada pela sequencia de Robin; orientacao antimongoloide das rimas palpebrais; atresia dos meatos acusticos externos; aplasia da ulna e sinostose humero-radial bilateral; 4 ossos metacarpais e 4 dedos com provavel ausencia do segundo raio digital; ausencia da fibula direita com encurtamento e encurvamento da tibia, duplicacao pielocalicial bilateral. Este caso assim como outros descritos na literatura poderiam representar novos tipos de Disostoses Acrofaciais ou pertencerem ao espectro fenotipico da Sindrome de Nager
... Débora Romeo Bertola2, Lilian Maria José Albano3, Antranik Manissadjian4, Eloísa Auler-Bitenc... more ... Débora Romeo Bertola2, Lilian Maria José Albano3, Antranik Manissadjian4, Eloísa Auler-Bitencourt5 ... A menina apresentava hipermetropia, fissura palatina posterior e manchas hipo/hipercrômicas em membros ... meses de idade mostrava peso = 7 kg (2,5<p<10), comprimento ...
We retrospectively investigated six cases of discrepancy between prenatal fetal karyotype and pos... more We retrospectively investigated six cases of discrepancy between prenatal fetal karyotype and postnatal findings. In five cases, the chromosomal abnormalities initially found by CVS or amniocentesis were not confirmed by later analyses and postnatal examination. In one case, the fetal karyotype found to be normal by CVS had to be checked due to sonographic features and clinical anomalies found after
resUMo Estudo retrospectivo de seis casos em que houve discrepância entre cariótipo pré-natal e a... more resUMo Estudo retrospectivo de seis casos em que houve discrepância entre cariótipo pré-natal e achados pós-natais. Em cinco deles as anomalias cromossômicas que foram encontradas inicialmente pela biópsia de vilosidades coriônicas ou amniocentese não foram compatíveis com resultados posteriores. Já em um caso, o cariótipo inicial normal pela biópsia de vilosidades coriônicas necessitou de novo controle devido ao aparecimento de
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