نتایج جستجو برای: isochromosome 18p

تعداد نتایج: 551  

Journal: :Journal of pediatric surgery 2005
Tiago Henriques-Coelho Natália Oliva-Teles M Luz Fonseca-Silva Dick Tibboel Hercília Guimarães Jorge Correia-Pinto

Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting in a well clinically recognized syndrome. In our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cytogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the...

Journal: :Genome research 2008
Claudia M B Carvalho James R Lupski

Isochromosome 17q, or i(17q), is one of the most frequent nonrandom changes occurring in human neoplasia. Most of the i(17q) breakpoints cluster within a approximately 240-kb interval located in the Smith-Magenis syndrome common deletion region in 17p11.2. The breakpoint cluster region is characterized by a complex architecture with large ( approximately 38-49 kb), inverted and directly oriente...

Journal: :Blood 1981
D C Heaton P H Fitzgerald G J Fraser G D Abbott

A newborn without any signs of Down's syndrome was found to have an acute proliferation that remitted without drug therapy. Chromosomal analysis of blood, bone marrow, and skin cells revealed that the child was a constitutional mosaic with normal cells and a low number of cells in which one no. 21 chromosome was replaced by a probably isochromosome for the no. 21 long arm: 46,XY/46,XY,i(21q). T...

Journal: :Haematologica 2003
Zhijian Xiao Shihe Liu Minghua Yu Zefeng Xu Yushu Hao

1. Parisotto R, Gore CJ, Emslie KR, Ashenden MJ, Brugnara C, Howe C, et al. A novel method utilising markers of altered erythropoiesis for the detection of recombinant human erythropoietin abuse in athletes. Haematologica 2000;85:564-72. 2. Parisotto R, Wu M, Ashenden MJ, Emslie KR, Gore CJ, Howe C, et al. Detection of recombinant human erythropoietin abuse in athletes utilizing markers of alte...

2002
Michaela Aubele Gert Auer Herbert Braselmann Jörg Nährig Horst Zitzelsberger Leticia Quintanilla‐Martinez Jan Smida Axel Walch Heinz Höfler Martin Werner

Multiple chromosomal imbalances have been identified in breast cancer using comparative genomic hybridization (CGH). Their association with the primary tumors' potential for building distant metastases is unknown. In this study we have investigated 39 invasive breast carcinomas with a mean follow-up period of 99 months (max. 193 months) by CGH to determine the prognostic value of chromosomal ga...

Journal: :Journal of clinical and experimental hematopathology : JCEH 2016
Sanjay de Mel Joanne Lee Constance Chua Sok Peng Chua Leena Gole Limei Poon Jenny Li Siok Bian Ng Te Chih Liu Wee Joo Chng Yen Lin Chee

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