Cytogenomic characterization of three murine malignant mesothelioma tumor cell lines
Malignant mesothelioma (MM) is a rare aggressive cancer primary located in pleura and lung. MMs can be divided into biphasic, epithelioid and sarcomatoid subtypes. In majority of cases MMs are induced by asbes... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 9, 2020 Category: Molecular Biology Authors: Eva Wahlbuhl, Thomas Liehr, Martina Rincic and Shaymaa Azawi Tags: Research Source Type: research
Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review
Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial featur... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 7, 2020 Category: Molecular Biology Authors: Emiy Yokoyama, Camilo E. Villarroel, Sinhu é Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina and Sara Frias Tags: Case Report Source Type: research
Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis
Acute leukemias represent the main malignancies occurring among children under the age of 15 years. Around 17% corresponds to acute myeloid leukemia (AML). The cytogenetic analysis of bone marrow complements t... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 4, 2020 Category: Molecular Biology Authors: Sinhue Alejandro Brukman-Jimenez, Lucina Bobadilla-Morales, Jorge Rom án Corona-Rivera, Pablo Alejandro Chávez-Panduro, Citlalli Ortega-de-la-Torre, Uriel Francisco Santana-Bejarano, Elizabeth Torres-Anguiano, Lucero Mendoza-Maldonado, Fernando Antonio Tags: Case Report Source Type: research
Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review
The FOXG1 gene plays a vital role in mammalian brain differentiation and development. Intra- and intergenic mutations resulting in loss of function or altered expression of the FOXG1 gene cause FOXG1 syndrome. Th... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 3, 2020 Category: Molecular Biology Authors: Connor P. Craig, Emily Calamaro, Chin-To Fong, Anwar M. Iqbal, Alexander R. Paciorkowski and Bin Zhang Tags: Case Report Source Type: research
Application value of NIPT for uncommon fetal chromosomal abnormalities
To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 28, 2020 Category: Molecular Biology Authors: Lianli Yin, Yinghua Tang, Qing Lu, Aiping Pan and Mingfang Shi Tags: Research Source Type: research
Prenatal diagnosis of mosaic trisomy 2 and literature review
We presented two cases of mosaic trisomy 2 with high risk of maternal serum screening and non-invasive prenatal testing (NIPT). The invasive amniocentesis was performed and genetic tests including karyotype, s... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 25, 2020 Category: Molecular Biology Authors: Ting Wang, Jufei Lian, Congmian Ren, Huamei Huang, Yanlin Huang, Ling Xu, Laiping Zheng, Chanhui Cai and Li Guo Tags: Research Source Type: research
Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review
Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diag... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 25, 2020 Category: Molecular Biology Authors: Meng Liu, Yuan Ren, Xianfu Wang, Xianglan Lu, Ming Li, Young Mi Kim, Shibo Li and Lijun Zhang Tags: Research Source Type: research
Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations
This study aimed to evaluate 118 fetuses with CFMs by applying chrom... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 25, 2020 Category: Molecular Biology Authors: Chenyang Xu, Yanbao Xiang, Xueqin Xu, Lili Zhou, Huanzheng Li, Xueqin Dong and Shaohua Tang Tags: Research Source Type: research
Chromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype
Nijmegen breakage syndrome (NBS) is a rare genetic disorder inherited in an autosomal recessive pattern associated with an increased risk of developing lymphoproliferative disorders, mainly non-Hodgkin lymphom... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 20, 2020 Category: Molecular Biology Authors: Monika W łodarczyk and Monika Lejman Tags: Case Report Source Type: research
Coexistence of recurrent chromosomal abnormalities and the Philadelphia chromosome in acute and chronic myeloid leukemias: report of five cases and review of literature
Progression of chronic myelogenous leukemia (CML) is frequently accompanied by cytogenetic evolution. Additional genetic abnormalities are seen in 10 –20% of CML cases at the time of diagnosis, and in 60–80% of... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 19, 2020 Category: Molecular Biology Authors: Jin-Ying Gong, Zhen-Hao Zhang, Wei Zhang, Hui-Jun Wang, Xiao-Fang Feng, Ji Zhou and Guo-Qing Zhu Tags: Short report Source Type: research
Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report
Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bo... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 10, 2020 Category: Molecular Biology Authors: Anna Repczynska, Agata Pastorczak, Katarzyna Babol-Pokora, Jolanta Skalska-Sadowska, Malgorzata Drozniewska, Wojciech Mlynarski and Olga Haus Tags: Case Report Source Type: research
Mapping epigenetic modifications on chicken lampbrush chromosomes
The epigenetic regulation of genome is crucial for implementation of the genetic program of ontogenesis through establishing and maintaining differential gene expression. Thus mapping of various epigenetic mod... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 3, 2020 Category: Molecular Biology Authors: Tatiana Kulikova, Anna Surkova, Anna Zlotina and Alla Krasikova Tags: Research Source Type: research
13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping
Retinoblastoma is a malignancy of the eye in children characterized by biallelic inactivation of the retinoblastoma 1 gene (RB1), located at chromosome 13q14.2. Children with interstitial chromosome 13q deletions... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 23, 2020 Category: Molecular Biology Authors: Sabine Dittner-Moormann, Madlen Reschke, Eva Biewald, Alma Kuechler, Barbara Klein, Beate Timmermann, Dietmar Lohmann, Petra Ketteler and Deniz Kanber Tags: Case Report Source Type: research
Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes
Small supernumerary marker chromosomes (sSMCs) are rare structural abnormalities in the population; however, they are frequently found in children or fetuses with hypoevolutism and infertile adults. sSMCs are ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 14, 2020 Category: Molecular Biology Authors: Tingting Li, Haiquan Sang, Guoming Chu, Yuanyuan Zhang, Manlong Qi, Xiaoliang Liu, Wanting Cui and Yanyan Zhao Tags: Research Source Type: research
An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case
About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 20... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 10, 2020 Category: Molecular Biology Authors: Abdulsamad Wafa, Rami A. Jarjour, Abdulmunim Aljapawe, Suher ALmedania, Thomas Liehr, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman and Walid Al-Achkar Tags: Case Report Source Type: research
