نتایج جستجو برای: chromosome duplication

تعداد نتایج: 136802  

Journal: :iranian journal of science and technology (sciences) 2005
j. raheb

the combustion of sulfur-rich fossil fuels leads to the release of acid rain-causing sulfurdioxide into the environment. the aim of this study was to enhance the efficiency of biodesulfurizationusing pseudomonas aeruginosa through the duplication of the dsz cluster in this organism. one copy ofthe dsz cluster was inserted by a tri-parental mating method into the chromosome of pseudomonasaerugin...

Journal: :Journal of medical genetics 1989
A Caine D M Knapton R F Mueller P J Congdon D Haigh

A female with multiple dysmorphic features was found to have an unbalanced karyotype with duplication of the distal long arm of chromosome 17 and deletion of the terminal region of the short arm of chromosome 12. This was derived from a reciprocal translocation in the mother, 46,XX,t(12;17)(p13.3;q23). Clinical findings are presented and comparison with other reported cases of distal 17q duplic...

Journal: :Journal of medical genetics 1987
D Kumar P R Heath C E Blank

A patient with a small deletion of the short arm and a partial duplication of the long arm of chromosome 5 is described. The main clinical features include craniofacial dysmorphism, growth failure, developmental retardation, and congenital heart defect. The mother and male sib each carried an inv(5) (p15.3q35) but were phenotypically normal. The possible clinical manifestations of partial dupli...

2013
Francesca Malvestiti Francesco Benedicenti Simona De Toffol Sara Chinetti Adelheid Höller Beatrice Grimi Gertrud Fichtel Monica Braghetto Cristina Agrati Eleonora Bonaparte Federico Maggi Giuseppe Simoni Francesca Romana Grati

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurre...

Journal: :Proceedings of the National Academy of Sciences 1963

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 ...

2017
Saori Morinaga Masanori Tsukamoto Takeshi Yokoyama

Chromosome 6p duplication is very rare and clinically characterized by short stature, mental retardation, and congenital heart diseases. Patients with mental retardation may present with poor oral health conditions. Dental treatment may need to be performed under general anesthesia in such patients. Our case report deals with induction of general anesthesia to a patient with chromosome 6p dupli...

Journal: :Journal of Neurosciences in Rural Practice 2017

Journal: :Journal of Medical Genetics 1996

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