Submicroscopic chromosomal imbalances contribute to early abortion
This study aims to find ou... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 21, 2018 Category: Molecular Biology Authors: Haibo Li, Minjuan Liu, Min Xie, Qin Zhang, Jingjing Xiang, Chengying Duan, Yang Ding, Yinghua Liu, Jun Mao, Ting Wang and Hong Li Tags: Research Source Type: research
An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia
Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, ch... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 11, 2018 Category: Molecular Biology Authors: Viviane Lamim Lovatel, Daiane Corr êa de Souza, Tatiana Fonseca Alvarenga, Roberto R. Capela de Matos, Claudia Diniz, Marcia Trindade Schramm, Juan Clinton Llerena Júnior, Maria Luiza Macedo Silva, Eliana Abdelhay and Teresa de Souza Fernandez Tags: Case Report Source Type: research
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability
Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features wer... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 20, 2018 Category: Molecular Biology Authors: Luca Lovrecic, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor and Borut Peterlin Tags: Case Report Source Type: research
Publisher Correction: Is DNA methylation the new guardian of the genome?
In the original publication of this article [1] the figures and the captions of 3 figures do not match correctly due to a typographical error. In this correction article the corrected figures and captions for ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 13, 2018 Category: Molecular Biology Authors: Robert M. Hoffman Tags: Publisher Correction Source Type: research
A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing att... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 13, 2018 Category: Molecular Biology Authors: Jun-Kun Chen, Ping Liu, Li-Qin Hu, Qing Xie, Quan-Fei Huang and Hai-Liang Liu Tags: Case Report Source Type: research
