Assuntos
Aneuploidia , Cromossomos Humanos Par 15/genética , Repetições de Microssatélites/genética , Ribonucleoproteínas Nucleares Pequenas/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Autoantígenos , Pré-Escolar , Deficiências do Desenvolvimento/patologia , Feminino , Cardiopatias Congênitas/patologia , Hemangioma/patologia , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Microcefalia/patologia , Distrofias Musculares/patologia , Polidactilia/patologia , Proteínas Centrais de snRNPAssuntos
Aberrações Cromossômicas , Bandeamento Cromossômico/métodos , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 2 , Inversão Cromossômica , Cromossomos Humanos Par 2/ultraestrutura , Cor , Sondas de DNA , Feminino , Duplicação Gênica , Humanos , Hibridização in Situ Fluorescente , Masculino , Sensibilidade e Especificidade , Deleção de Sequência , Translocação GenéticaRESUMO
Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by using labeled centromeric satellite DNA as probes. This approach allows the rapid identification of all human centromeres by their individual pseudo-coloring in one single step and is therefore a powerful tool in molecular cytogenetics. CenM-FISH fills a gap in multicolor karyotyping using WCP probes and distinguishes all centromeric regions apart from the evolutionary highly conserved regions on the chromosomes 13 and 21. The usefulness of the cenM-FISH technique for the characterization of small supernumerary marker chromosomes with no (or nearly no) euchromatin and restricted amounts of available sample material is demonstrated in prenatal, postnatal, and tumor cytogenetic cases. In addition, rarely described markers with the involvement of heterochromatic material inserted into homogeneously staining regions could be identified and characterized by using the cenM-FISH technique.
Assuntos
Aberrações Cromossômicas/genética , Hibridização in Situ Fluorescente/métodos , Centrômero/genética , Coloração Cromossômica , Sondas de DNA , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Microscopia de Fluorescência , Células Tumorais CultivadasRESUMO
A case of chronic myelogenous leukaemia (CML) in a 48-year-old man is reported. To the best of our knowledge, this is the first report of a Philadelphia-negative CML with an acquired small supernumerary marker chromosome (SMC) 11 as the sole abnormality. The derivative chromosome 11 was studied in detail using molecular cytogenetic methods; fluorescence in situ hybridization (FISH) using centromere- and region-specific probes for chromosome 11, microdissection, micro-comparative genomic hybridization (micro-CGH) and the recently developed multicolour banding (MCB) technique. The acquired SMC was determined to be a ring chromosome that can be described as r(11)(:p11.2-->q13.1:q14:).
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 11 , Leucemia Mieloide Crônica Atípica BCR-ABL Negativa/genética , Transtornos Cromossômicos , Marcadores Genéticos , Humanos , Processamento de Imagem Assistida por Computador , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Pessoa de Meia-IdadeRESUMO
The characterization of a prenatally detected very small (approximately half of 18p-(karyotype: 47,XX,+mar[16]/46,XX[7]) supernumerary marker chromosome (SMC) identified by GTG-banding analysis is described. The marker has been identified as derived from chromosome 8 centromeric material using a combination of different cytogenetic (GTG-, NOR-, CBG banding), molecular cytogenetic (24 colour-fluorescent in situ hybridization [FISH], three-colour FISH using centromeric probes for all human chromosomes) and molecular genetic techniques (microsatellite analysis). This is the first case described with such a minute SMC derived from chromosome 8 diagnosed prenatally, the 15th case reporting on a SMC originating from chromosome 8 and the third such case without any severe clinical features.