Molecular Cytogenetics | Home page

Molecular Cytogenetics | Home page



Molecular Cytogenetics

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1. Content Type:Case Report

     |  14 June 2019

   A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

   Authors:Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani and Antonio Novelli
2. Content Type:Case Report

     |  27 May 2019

   Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report

   Authors:Chen-Zhao Lin, Bi-Ru Qi, Jian-Su Hu, Yu-Dian Huang and Xiu-Qiong Huang
3. Content Type:Research

     |  27 May 2019

   Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation

   Authors:Şule Altıner and Nüket Yürür Kutlay
4. Content Type:Research

     |  24 May 2019

   Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas

   Authors:Sina Hemmer, Steffi Urbschat, Joachim Oertel and Ralf Ketter
5. Content Type:Short Report

     |  18 May 2019

   First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

   Authors:Maysoon Alsagob, Mustafa A. Salih, Muddathir H. A. Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M. Wakil, Ali AlOdaib, Dilek Colak and Namik Kaya