نتایج جستجو برای: deletion 6q

تعداد نتایج: 79891  

Journal: :iranian journal of public health 0
shirin ferdowsi 1. dept. of hematology, iranian blood transfusion organization , tehran, iran. reza shirkoohi 2. dept. of molecular genetics, cancer research center, cancer institute, imam khomeini hospital complex, tehran university of medical sciences , tehran, iran. gholamreza toogeh 3. dept. of hematology-oncology and bmt research center, imam khomeini hospital complex, tehran university of medical sciences , tehran, iran.

the myelodysplastic syndrome (mds) is a highly heterogenous disorder and karyotype analysis is helpful for diagnostic and prognostic estimation. deletion in long arm chromosome 6 (6q del) as a sole abnormality is a rare event in mds. this is the first case report of del (6q) as the only observed diagnostic change in iran. we also reviewed the literature of this cytogenetic lesion.

Journal: :Pediatrics & Neonatology 2008

2017
Martina Kluth Simon Jung Omar Habib Mina Eshagzaiy Anna Heinl Nina Amschler Sawinee Masser Malte Mader Frederic Runte Philipp Barow Sohall Frogh Jazan Omari Christina Möller-Koop Claudia Hube-Magg Joachim Weischenfeldt Jan Korbel Stefan Steurer Till Krech Hartwig Huland Markus Graefen Sarah Minner Guido Sauter Thorsten Schlomm Ronald Simon

Prostate cancer is characterized by recurrent deletions that can considerably vary in size. We hypothesized that large deletions develop from small deletions and that this "deletion lengthening" might have a "per se" carcinogenic role through a combinatorial effect of multiple down regulated genes. In vitro knockdown of 37 genes located inside the 6q12-q22 deletion region identified 4 genes wit...

Journal: :Haematologica 2005
Marie Ravoet Catherine Sibille Florence Roufosse Hugues Duvillier Christos Sotiriou Liliane Schandené Philippe Martiat Michel Goldman Karen E Willard-Gallo

BACKGROUND AND OBJECTIVES The lymphocytic variant of hypereosinophilic syndrome (LV-HES) is an underrated disease defined by the monoclonal proliferation of interleukin-5 secreting T-cells. This disease is distinguished by a period of chronic lymphoproliferation without clinical transformation, which is frequently a precursor to T-cell lymphoma. In this study, LV-HES was used as a model of pre-...

2014
Jung-Ah Kim Kyongok Im Si Nae Park Jiseok Kwon Qute Choi Sang Mee Hwang Naohiro Sekiguchi Sung-Soo Yoon Dong Soon Lee Seon Young Kim

Waldenström macroglobulinemia (WM) is a malignant lymphoplasma-proliferative disorder with IgM monoclonal gammopathy. A recent whole-genome study identified MYD88 L265P as the key mutation in WM. We investigated MYD88 mutations in conjunction with cytogenetic study in 22 consecutive Korean WM patients. Conventional G-banding and interphase fluorescence in situ hybridization (FISH) were performe...

2013
Shirin Ferdowsi Reza Shirkoohi Gholamreza Toogeh

BACKGROUND The myelodysplastic syndrome (MDS) is a highly heterogenous disorder and karyotype analysis is helpful for diagnostic and prognostic estimation. Deletion in long arm chromosome 6 (6q del) as a sole abnormality is a rare event in MDS. This is the first case report of del (6q) as the only observed diagnostic change in Iran. We also reviewed the literature of this cytogenetic lesion.

2017
Megan L Donahue Luis O Rohena

We present a patient with a 17.31 MB interstitial deletion of 6q16.3-6q22.31, who demonstrates a unique constellation of 6q- features. Among 6q- patients, he has limb reduction among the most severe reported, he is the second patient with duodenal atresia, and is the first documented case of diaphragmatic eventration.

Journal: :Cancer research 2004
Paul B Sinclair Amani Sorour Mary Martineau Christine J Harrison Wayne A Mitchell Elena O'Neill Letizia Foroni

With the objective of identifying candidate tumor suppressor genes, we used fluorescence in situ hybridization to map leukemia-related deletions of the long arm of chromosome 6 (6q). Twenty of 24 deletions overlapped to define a 4.8-Mb region of minimal deletion between markers D6S1510 and D6S1692 within chromosome 6 band q16. Using reverse transcription-PCR, we found evidence of expression in ...

2018

Submit Manuscript | http://medcraveonline.com have been infrequently described in the literature but do appear to represent a syndrome with some common phenotypic features. Recognition of terminal 6q deletion syndrome is important as this allows for proper anticipatory guidance to be provided to patients and their families, evaluation for associated abnormalities, and the implementation of appr...

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