RESUMO
Microdeletions of 8q21.3-8q22.1 have been identified in all patients with Nablus mask-like facial syndrome (NMLFS). A recent report of a patient without this specific phenotype presented a 1.6 Mb deletion in this region that partially overlapped with previously reported 8q21.3 microdeletions, thus restricting critical region for this syndrome. We report on another case of an 8q21.3 deletion revealed by array comparative genome hybridization (aCGH) in a 4-year-old child with global developmental delay, autism, microcephaly, but without Nablus phenotype. The size of the interstitial deletion was estimated to span 5.2 Mb. By combining the data from previous reports on 8q21.3-8q22.1 deletions and our case, we were able to narrow the critical region of Nablus syndrome to 0.5 Mb. The deleted region includes FAM92A1, which seems to be a potential candidate gene in NMLFS.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Blefarofimose/diagnóstico , Blefarofimose/genética , Deleção Cromossômica , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Transtorno Autístico/genética , Cromossomos Humanos Par 8/genética , Hibridização Genômica Comparativa/métodos , Deficiências do Desenvolvimento/genética , Humanos , Quinase I-kappa B/genética , Quinase I-kappa B/metabolismo , Hibridização in Situ Fluorescente/métodos , Lactente , Cariótipo , Masculino , Microcefalia/genética , FenótipoRESUMO
We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 --> 20qter and highlights the relevance of CGH for the detection of such rearrangements.
Assuntos
Cromossomos Humanos Par 20/genética , Duplicação Gênica , Trissomia/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adulto , Pré-Escolar , Anormalidades Craniofaciais , Análise Citogenética , Deficiências do Desenvolvimento , Feminino , Humanos , Masculino , Hibridização de Ácido Nucleico/métodosRESUMO
Leukemia cell lines K562, KG1a, U937, HL60, Jurkat and solid tumor cell lines A549 and M4Beu are widely used in studies of cell cycle, apoptosis and adhesion mechanisms in cancer cells. Although the K562 and U937 cell lines were previously subjected to a detailed cytogenetic characterization, only a few molecular cytogenetic investigations have been performed on the other five cell lines. We combined several molecular cytogenetic techniques, such as fluorescence in situ hybridization (FISH), multicolor FISH (M-FISH), and comparative genomic hybridization (CGH) to demonstrate the precise genetic aberrations in tumor genomes of these seven cell lines. This information may be useful for multiple studies on these cell lines, providing a genetic basis for the interpretations of experimental findings.
Assuntos
Cromossomos Humanos/genética , Análise Citogenética/métodos , Neoplasias/genética , Neoplasias/patologia , Linhagem Celular Tumoral , Bandeamento Cromossômico , DNA de Neoplasias/genética , Humanos , Hibridização in Situ Fluorescente , Células K562 , Cariotipagem , Hibridização de Ácido Nucleico , Células U937RESUMO
Since the establishment of human karyotype in 1956, human cytogenetic has quickly progressed. The description of the Philadelphia chromosome in 1960 led up to new applications of cytogenetic in the fields of hematology and oncology. The initial techniques allowed only uniform staining of chromosomes, limiting the detection of most structural rearrangements. Many approaches aimed to gain a better knowledge of chromosomal structure, a better understanding of rearrangements, and a better identification of the chromosomes were developed: autoradiography, banding techniques, electronic microscopy. Since 1980, new developments in clinical cytogenetic and molecular biology have occurred. In situ labeling using non-radioactive probes onto chromosomes and nuclei was developed: fluorescence in situ hybridization (Fish) was born. Fish allows detecting many chromosomal abnormalities of number and/or structure. The major limitation of this technique is that its use should be based on known indications for the choice of the probe. Multicolor karyotype (M-Fish or Sky), the most recent development of Fish on metaphase spreads, allows to overcome this limit. As shown here in three examples, M-Fish allows to describe precisely complex rearrangements in hematological malignancies and solid tumors. Finally, if no metaphase is available, comparative genomic hybridization (CGH) can be performed to detect and simultaneously localize on chromosomes gains or losses in genomic DNA.