نتایج جستجو برای: supernumerary marker chromosomes

تعداد نتایج: 200561  

Journal: :Journal of pediatric genetics 2015
Marine Manvelyan Izabella Simonyan Galina Hovhannisyan Rouben Aroutiounian Ahmed B Hamid Thomas Liehr

Complex small supernumerary marker chromosomes (sSMCs) constitute one of the smallest subsets within the patients with an sSMC. Complex sSMCs consist of chromosomal material derived from more than one chromosome, for example, the derivative der(22)t(11;22)(q23;q11.2) in Emanuel syndrome. Here, a yet unreported case of a complex sSMC formed due to a t(7;9)(p22;q22)mat is presented.

Journal: :international journal of molecular and cellular medicine 0
javad karimzad hagh parseh pathobiology & genetics laboratory, tehran, iran. thomas liehr jena university hospital, friedrich schiller university, institute of human genetics, jena, germany. hamid ghaedi department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran. mir majid mossalaeie parseh pathobiology & genetics laboratory, tehran, iran. shohreh alimohammadi endometrium and endometriosis research center, faculty of medicine, hamedan university of medical sciences, hamedan, iran. faegheh inanloo hajiloo parseh pathobiology & genetics laboratory, tehran, iran.

small supernumerary marker chromosomes (ssmc) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. on the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...

Journal: :The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2007
Holger Tönnies Joanna Pietrzak Ewa Bocian Kay MacDermont Alma Kuechler Britta Belitz Udo Trautmann Angela Schmidt Berndt Schulze Laura Rodríguez Franz Binkert Catharine Yardin Nadezda Kosyakova Marianne Volleth Hasmik Mkrtchyan Isolde Schreyer Ferdinand von Eggeling Anja Weise Kristin Mrasek Thomas Liehr

Sixteen newly established cell lines with small supernumerary marker chromosomes (sSMC) derived from chromosomes 1, 2, 4, 6, 7, 8, 14, 15, 16, 18, 19, 21, and 22 are reported. Two sSMC are neocentric and derived from 15q24.1-qter and 2q35-q36, respectively. Two further cases each present with two sSMC of different chromosomal origin. sSMC were characterized by multicolor fluorescence in situ hy...

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