A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome
B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL case... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 11, 2020 Category: Molecular Biology Authors: Abdulsamad Wafa, Rami A. Jarjour, Doaa Alolabi, Thomas Liehr, Othman Hamdan, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman and Walid Al-Achkar Tags: Case Report Source Type: research

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

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 8, 2020 Category: Molecular Biology Authors: Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen and Huaxiang Shen Tags: Research Source Type: research

Does ICSI for in vitro fertilization cause more aneuploid embryos?
High proportion of human embryos produced by in vitro fertilization (IVF) is aneuploidy. Many factors are related to the prevalence of embryonic aneuploidies, such as maternal age, sperm quality, and in vitro ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 1, 2020 Category: Molecular Biology Authors: Xiangli Niu, Jiamin Long, Fangqiang Gong and Weihua Wang Tags: Case Report Source Type: research

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced transloca... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 30, 2020 Category: Molecular Biology Authors: Jingbo Zhang, Bei Zhang, Tong Liu, Huihui Xie and Jingfang Zhai Tags: Case Report Source Type: research

Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis
Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL b... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 26, 2020 Category: Molecular Biology Authors: J éssica Almeida Batista-Gomes, Fernando Augusto Rodrigues Mello Jr, Edivaldo Herculano Corrêa de Oliveira, Michel Platini Caldas de Souza, Alayde Vieira Wanderley, Laudreisa da Costa Pantoja, Ney Pereira Carneiro dos Santos, Bruna Cláudia Meireles Kha Tags: Short report Source Type: research

Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report
Tourette syndrome (TS) is a complex neurodevelopmental disorder (NDD) characterized by multiple chronic involuntary motor and vocal tics with onset during childhood or adolescence. Most TS patients present wit... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 22, 2020 Category: Molecular Biology Authors: Stefania Maccarini, Annamaria Cipani, Valeria Bertini, Jelena Skripac, Alessandro Salvi, Giuseppe Borsani and Eleonora Marchina Tags: Case Report Source Type: research

Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report
Male infertility is an increasing medical concern worldwide. In most cases, genetic factors are considered as the main cause of the disease. Globozoospermia (MIM102530) (also known as round-headed sperm) is a ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 22, 2020 Category: Molecular Biology Authors: You-zhu Li, Rong-feng Wu, Xing-shen Zhu, Wen-sheng Liu, Yuan-yuan Ye, Zhong-xian Lu and Na Li Tags: Case Report Source Type: research

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
It has been known for more than 30  years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a di... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 11, 2020 Category: Molecular Biology Authors: Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi and Marco Fichera Tags: Case Report Source Type: research

Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder
Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can ’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC ca... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 10, 2020 Category: Molecular Biology Authors: Yinghong Lu, Yi Liang, Sisi Ning, Guosheng Deng, Yuling Xie, Jujie Song, Na Zuo, Chunfeng Feng and Yunrong Qin Tags: Case Report Source Type: research

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family
This article reports identification of a chromosome 1q22 microdeletion... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 4, 2020 Category: Molecular Biology Authors: Hui Xi, Ying Peng, Wanqin Xie, Jialun Pang, Na Ma, Shuting Yang, Jinping Peng and Hua Wang Tags: Case Report Source Type: research

Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array
Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and expl... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 27, 2020 Category: Molecular Biology Authors: Lili Zhou, Zhaoke Zheng, Lianpeng Wu, Chenyang Xu, Hao Wu, Xueqin Xu and Shaohua Tang Tags: Research Source Type: research

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports
Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology. However, the clinical utility and validity of this... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 25, 2020 Category: Molecular Biology Authors: Yiming Qi, Jiexia Yang, Yaping Hou, Rong Hu, Dongmei Wang, Haishan Peng and Aihua Yin Tags: Case Report Source Type: research

Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat
Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retarda... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 19, 2020 Category: Molecular Biology Authors: Juan Pablo Meza-Espinoza, Enrique S áinz González, Christian J. N. León-León, Eliakym Arámbula-Meraz, José Alfredo Contreras-Gutiérrez, Noemí García-Magallanes, Jesús Madueña-Molina, Fred Luque-Ortega, Salvador Cervín-Serrano and Verónica Jud Tags: Case Report Source Type: research

Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging
Somatic chromosomal mosaicism is the presence of cell populations differing with respect to the chromosome complements (e.g. normal and abnormal) in an individual. Chromosomal mosaicism is associated with a wi... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 7, 2020 Category: Molecular Biology Authors: Svetlana G. Vorsanova, Yuri B. Yurov and Ivan Y. Iourov Tags: Hypothesis Source Type: research

Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies
Apparently balanced chromosome rearrangements (ABCRs) in non-affected individuals are well-known to possess high reproductive risks such as infertility, abnormal offspring, and pregnancy loss. However, caution... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 6, 2020 Category: Molecular Biology Authors: Ya-Qi Tan, Yue-Qiu Tan and De-Hua Cheng Tags: Case Report Source Type: research

Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report
Constitutional heterologous double Robertsonian translocations (DRT) between chromosomes 13/14 and chromosomes 14/15 with 44 chromosomes are extremely rare. In this case report, we present the karyotype analys... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 16, 2020 Category: Molecular Biology Authors: Ramakrishnan Sasi, Jamie Senft, Michelle Spruill, Soham Rej and Peter L. Perrotta Tags: Case Report Source Type: research

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array
Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which pose... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 10, 2020 Category: Molecular Biology Authors: Pingping Zhang, Yanmei Sun, Ping Huo, Haishen Tian, Jian Gao and Yali Li Tags: Case Report Source Type: research

A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome
Chromosomal rearrangements in addition to t(15;17) have been reported in 25-40% of APL patients, with a large predominance of trisomy 8. Other abnormalities are far less frequent, particularly as ider(17), and... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 10, 2020 Category: Molecular Biology Authors: Yongming Liu, Junqing Xu, Lina Chu, Limei Yu, Yanhong Zhang, Li Ma, Weihua Wang, Yangyang Zhang, Yimin Xu and Riming Liu Tags: Case Report Source Type: research

Copy number variations associated with fetal congenital kidney malformations
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20 –30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This stud... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 24, 2020 Category: Molecular Biology Authors: Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang and Liangpu Xu Tags: Research Source Type: research

Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma
Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 12, 2020 Category: Molecular Biology Authors: Yipeng Wang, Shanshan Li, Wei Wang, Yuan Dong, Meng Zhang, Xin Wang and Chenghong Yin Tags: Research Source Type: research

Non-invasive prenatal screening for Emanuel syndrome
The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromos... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 4, 2020 Category: Molecular Biology Authors: Yuqin Luo, Jie Lin, Yixi Sun, Yeqing Qian, Liya Wang, Min Chen, Minyue Dong and Fan Jin Tags: Research Source Type: research

Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms
To explore the clinical features of the patients with BCR-ABL1-negative chronic myeloproliferative neoplasms (MPNs) in our hospital and to reveal the unique features of BCR-ABL1-negative MPNs patients in our cent... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 17, 2020 Category: Molecular Biology Authors: Xiaolan Lin, Huifang Huang and Ping Chen Tags: Research Source Type: research

Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome
Fetal cells collected from the amniotic fluid of two pregnant women indicated sex chromosome abnormalities. Therefore, we performed G-banded chromosome karyotype analysis, single nucleotide polymorphism array ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 11, 2020 Category: Molecular Biology Authors: Si He, Hui Xi, Jing Chen, Dan Wang, Jialun Pang, Jiancheng Hu, Qin Liu, Zhengjun Jia and Hua Wang Tags: Case Report Source Type: research

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report
This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 6, 2020 Category: Molecular Biology Authors: J. B. Wu, J. Sha, J. F. Zhai, Y. Liu and B. Zhang Tags: Case Report Source Type: research

Non-invasive prenatal test to screen common trisomies in twin pregnancies
Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has ga... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 5, 2020 Category: Molecular Biology Authors: Mahtab Motevasselian, Soraya Saleh Gargari, Sarang Younesi, Parichehr Pooransari, Pourandokht Saadati, Masoomeh Mirzamoradi, Shahram Savad, Mohammad Mahdi Taheri Amin, Mohammad-Hossein Modarresi, Maryam Afrakhteh and Soudeh Ghafouri-Fard Tags: Research Source Type: research

Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5 ’MYH11/3’CBFB gene fusion: a report of two cases and literature review
Abnormalities of chromosome 16 are found in about 5 –8% of acute myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favo... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 30, 2020 Category: Molecular Biology Authors: Lili Lv, Jingwei Yu and Zhongxia Qi Tags: Case Report Source Type: research

Chromoanagenesis: a piece of the macroevolution scenario
Over the last decade, new types of massive and complex chromosomal rearrangements based on the chaotic shattering and restructuring of chromosomes have been identified in cancer cells as well as in patients wi... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 28, 2020 Category: Molecular Biology Authors: Franck Pellestor and Vincent Gatinois Tags: Review Source Type: research

Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities
Cordocentesis in our practice is most commonly indicated for rapid karyotyping in the second or third trimester and is regarded as the gold standard for foetal chromosomal aberration diagnosis in pregnancies a... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 23, 2020 Category: Molecular Biology Authors: Yanmei Sun, Pingping Zhang, Ning Zhang, Limin Rong, Xiaoping Yu, Xianghua Huang and Yali Li Tags: Research Source Type: research

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype
Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS). The most frequent ones include an isochromosome of the long arm of chromosome 7, i (7)(q10),... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 2, 2020 Category: Molecular Biology Authors: Abdul Waheed Khan, Antonella Minelli, Annalisa Frattini, Giuseppe Montalbano, Alessia Bogni, Marco Fabbri, Giovanni Porta, Francesco Acquati, Rita Maria Pinto, Elena Bergami, Rossella Mura, Anna Pegoraro, Simone Cesaro, Marco Cipolli, Marco Zecca, Cesare Tags: Research Source Type: research

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
Isodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phen... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 27, 2019 Category: Molecular Biology Authors: Yang Yang and Wang Hao Tags: Research Source Type: research

Laundering CNV data for candidate process prioritization in brain disorders
Prioritization of genomic data has become a useful tool for uncovering the phenotypic effect of genetic variations (e.g. copy number variations or CNV) and disease mechanisms. Due to the complexity, brain diso... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 26, 2019 Category: Molecular Biology Authors: Maria A. Zelenova, Yuri B. Yurov, Svetlana G. Vorsanova and Ivan Y. Iourov Tags: Methodology Source Type: research

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 21, 2019 Category: Molecular Biology Authors: Ganye Zhao, Peng Dai, Shanshan Gao, Xuechao Zhao, Conghui Wang, Lina Liu and Xiangdong Kong Tags: Case Report Source Type: research

A novel 14q13.1 –21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2 –1, PAX9 we... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 19, 2019 Category: Molecular Biology Authors: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu and Chanjuan Hao Tags: Case Report Source Type: research

The variome concept: focus on CNVariome
Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 19, 2019 Category: Molecular Biology Authors: Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov Tags: Hypothesis Source Type: research

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication
Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign. In the current study, an attempt to investigate the pathogenicity of C... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 11, 2019 Category: Molecular Biology Authors: Jianlong Zhuang, Yuanbai Wang, Shuhong Zeng, Chunling Lv, Yiming Lin and Yuying Jiang Tags: Research Source Type: research