نتایج جستجو برای: array cgh
تعداد نتایج: 134291 فیلتر نتایج به سال:
نشانگان میلر- دیکر یکی از علل عقب ماندگی ذهنی شدید به همراه لیزنسفالی است. حذف پیوسته ژنی در بازوی بلند کروموزوم 17 باعث این بیماری می شود. علائم این بیماران شامل میکروسفالی، باریک شدگی تمپورال دوطرفه، بینی کوچک با پره های برآمده، لب فوقانی برآمده، چانه کوچک، گوش های پایین، هیپوتونی، تشنج، ناهنجاری های مغزی به خصوص لیزنسفالی و عقب افتادگی ذهنی شدید می باشد. در این مقاله پسر 2 ساله ای با علائم م...
PURPOSE Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS We included 27 children who fulfilled the following criteria: Korean children under 6 ...
Alterations in the genome that lead to changes in DNA sequence copy number are characteristic features of solid tumors. We used CGH+SNP microarray and HPV-FISH techniques for detailed screening of copy number alterations (CNAs) in a cohort of 26 patients with cervical carcinoma (CC). This approach identified CNAs in 96.2% (25/26) of tumors. Array-CGH discovered CNAs in 73.1% (19/26) of samples,...
BACKGROUND direct DNA sequencing is the primary clinical technique for identifying mutations in human disease, but sequencing often does not detect intragenic or whole-gene deletions. Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal copy number. METHODS a custom oligonucleotide-based microarray was construc...
Developing effective methods for analyzing array-CGH data to detect chromosomal aberrations is very important for the diagnosis of pathogenesis of cancer and other diseases. Current analysis methods, being largely based on smoothing and/or segmentation, are not quite capable of detecting both the aberration regions and the boundary break points very accurately. Furthermore, when evaluating the ...
Alterations in genomic content and changes in gene expression levels are central characteristics of tumors and pivotal to the tumorigenic process. We analyzed 23 non-small cell lung cancer (NSCLC) tumors by array comparative genomic hybridization (array CGH). Aberrant regions identified included well-characterized chromosomal aberrations such as amplifications of 3q and 8q and deletions of 3p21...
BACKGROUND Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-depend...
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