Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
نویسندگان
چکیده
منابع مشابه
Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
INTRODUCTION Array comparative genomic hybridisation (array CGH) is a powerful method that detects alteration of gene copy number with greater resolution and efficiency than traditional methods. However, its ability to detect disease causing duplications in constitutional genomic DNA has not been shown. We developed an array CGH assay for X linked hypopituitarism, which is associated with dupli...
متن کاملHigh resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.
J A Veltman, H G Yntema, D Lugtenberg, H Arts, S Briault, E H L P G Huys, K Osoegawa, P de Jong, H G Brunner, A Geurts van Kessel, H van Bokhoven, E F P M Schoenmakers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملLETTER TO JMG High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
J A Veltman, H G Yntema, D Lugtenberg, H Arts, S Briault, E H L P G Huys, K Osoegawa, P de Jong, H G Brunner, A Geurts van Kessel, H van Bokhoven, E F P M Schoenmakers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملGenome wide array comparative genomic hybridisation analysis of premalignant lesions of the stomach.
BACKGROUND Gastric cancer is one of the most frequent malignancies in the world, ranking fifth in the Netherlands as a cause of cancer death. Surgery is the only curative treatment for advanced cases, but results of gastrectomy largely depend on the stage of the disease. A better understanding of the mechanisms of progression from a preneoplastic condition through intraepithelial neoplasia to i...
متن کامل2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
BACKGROUND Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With this genotype-first approach, the 2q22.3q23.3 deletion was recently described as a novel microdeletion syndrome. The authors report two unrelated patients with a de novo interstitial deletion mapping in this genomic region and pre...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2007
ISSN: 1468-6244
DOI: 10.1136/jmg.2007.049049