نتایج جستجو برای: supernumerary marker chromosomes

تعداد نتایج: 200561  

2015
Manolo Penitente Fausto Foresti Fábio Porto-Foresti

B chromosomes have attracted the attention of Neotropical fish cytogeneticists in recent years, both for their remarkable occurrence in this group and also because of the interest in studies of the genetic structure and role played in the genome of these organisms. The aim of this study was to report the first occurrence of supernumerary chromosomes in Prochilodusargenteus (Agassiz, 1829), this...

Journal: :Journal of medical genetics 2000
P Stankiewicz E Bocian K Jakubów-Durska E Obersztyn E Lato H Starke K Mroczek T Mazurczak

A large number of cases with supernumerary marker chromosomes (SMCs) should be compared to achieve a better delineation of karyotype-phenotype correlations. Here we present four phenotypically abnormal patients with autosomal marker chromosomes analysed by fluorescence in situ hybridisation using centromeric, telomeric, and unique sequence probes, as well as forward and reverse painting. We als...

Journal: :iranian journal of public health 0
n.lzadian h.sussman

based on the evaluation of two human cell lines, hela and chang, abeuploidy and several marker chromosomes were found in both cells. the morphological characteristic of marker chromosomes of chang cells was distinctly different from hela. certain submetacentric marker chromosome was frequently present among 80% of marker chromosomes of chang cells which distinguished this line from hela, which ...

Journal: :Cytogenetic and genome research 2007
L Backx H Van Esch C Melotte N Kosyakova H Starke J-P Frijns T Liehr J R Vermeesch

Molecular characterization of breakpoints of chromosomal rearrangements is a successful strategy for the identification of candidate disease genes. Mapping translocation breakpoints and rearranged chromosomal boundaries is labor intensive and/or time consuming. Here, we present a novel and rapid procedure to map such chromosomal breakpoints by hybridizing amplified microdissection derived DNA o...

Journal: :Egyptian Journal of Medical Human Genetics 2021

Abstract Background The presence of small supernumerary marker chromosomes (sSMCs) in a karyotype leads to diagnostic questions because the resulting extra material may cause abnormal development depending on origin duplication/triplication. Because SMCs are so small, their cannot be determined by conventional cytogenetic techniques, and new molecular methods necessary. Here, we applied target ...

Journal: :Prenatal diagnosis 2006
Rosário Pinto Leite Marta Souto Berta Carvalho Márcia Martins Raquel Chaves Angela Morais Henrique Guedes-Pinto Johannes Wienberg Eufémia Ribeiro

OBJECTIVES Marker chromosomes are relatively rare in the general population as its identification at prenatal diagnosis. In this article, we identified and characterized two de novo supernumerary marker chromosomes in a mosaic form at prenatal diagnosis. METHODS The two cases presented were detected during prenatal diagnosis at 17 and 15 weeks of gestation. The analyses were performed due to ...

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