The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects
Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of interna... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 20, 2019 Category: Molecular Biology Authors: Zhiwen Shi, Shuxia Chen, Xiao Han, Rui Peng, Jin Luo, Luming Yang, Yufang Zheng and Hongyan Wang Tags: Research Source Type: research
Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 r... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 18, 2019 Category: Molecular Biology Authors: Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao and Aihua Yin Tags: Research Source Type: research
Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal r... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 11, 2019 Category: Molecular Biology Authors: Franck Pellestor Tags: Review Source Type: research
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The ai... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 8, 2019 Category: Molecular Biology Authors: Wafa Slimani, Hela Ben Khelifa, Sarra Dimassi, Fatma-Zohra Chioukh, Afef Jelloul, Molka Kammoun, Hanene Hannachi, Sarra Bouslah, Nesrine Jammali, Damien Sanlaville, Ali Saad and Soumaya Mougou-Zerelli Tags: Research Source Type: research
Pathway-based classification of genetic diseases
In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 4, 2019 Category: Molecular Biology Authors: Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov Tags: Hypothesis Source Type: research
A patient with a diagnosis of nodal marginal zone B-cell lymphoma and a t(2;14)(p24;q32) involving MYCN and IGH
Nodal marginal zone B-cell lymphoma is a rare entity in which the cytogenetic findings are not well defined. The t(2;14)(p24;q32) has previously been reported in three patients with blastic mantle cell lymphom... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 1, 2019 Category: Molecular Biology Authors: Angela Brown, Isabella Sciascia-Visani, Dianna Farrell, Meg Smith, Clive Felix, Vanaja Mutharajah, Jackie Ruell and Graeme Taylor Tags: Case Report Source Type: research
Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes
The most frequent cytogenetic abnormality detected in chronic lymphocytic leukemia (CLL) patients is the presence of a deletion within the chromosome band 13q14. Deletions can be heterogeneous in size, general... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 31, 2019 Category: Molecular Biology Authors: Mar ía Paulina Nava-Rodríguez, Martín Daniel Domínguez-Cruz, Lilia Beatriz Aguilar-López, César Borjas-Gutiérrez, María Teresa Magaña-Torres and Juan Ramón González-García Tags: Case Report Source Type: research
Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes
Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosin... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 9, 2019 Category: Molecular Biology Authors: Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li and Aihua Yin Tags: Case Report Source Type: research
The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier
The aim of Preimplantation Genetic Diagnosis (PGD) on embryos produced in vitro is to identify the embryos without genetic or chromosomal defect from those embryos that will develop the genetic disease or are chr... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 29, 2018 Category: Molecular Biology Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Carmelita Alecci and Antonino Guglielmino Tags: Case Report Source Type: research
Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 29, 2018 Category: Molecular Biology Authors: Franziska Schnabel, Mateja Smogavec, Rudolf Funke, Silke Pauli, Peter Burfeind and Iris Bartels Tags: Case Report Source Type: research
VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia
VIII World Rett Syndrome Congress& Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 24, 2018 Category: Molecular Biology Authors: Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov and Thomas Bertrand Tags: Review Source Type: research
Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report
Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 20, 2018 Category: Molecular Biology Authors: Elizabeth R. Kerr, Gary M. Stuhlmiller, George C. Maha, Mark A. Ladd, Fady M. Mikhail, Ruth P. Koester and Anna C. E. Hurst Tags: Case Report Source Type: research
The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies
Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such as T21, T18, and T13, with low false po... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 3, 2018 Category: Molecular Biology Authors: Hongge Li, Yu Lei, Hui Zhu, Yuqin Luo, Yeqing Qian, Min Chen, Yixi Sun, Kai Yan, Yanmei Yang, Bei Liu, Liya Wang, Yingzhi Huang, Junjie Hu, Jianyun Xu and Minyue Dong Tags: Research Source Type: research
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior pre... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 28, 2018 Category: Molecular Biology Authors: Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu and Hua Cao Tags: Research Source Type: research
Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Dup... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 6, 2018 Category: Molecular Biology Authors: A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid and M. S. Zaki Tags: Case Report Source Type: research
