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
