First case of two supernumerary markers derived from chromosome 5 and chromosome 8
Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding cytogenetics alone. A sSMC can originate from any chromosome and it is estimated ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 27, 2022 Category: Molecular Biology Authors: Roberta Giansante, Chiara Palka Bayard De Volo, Melissa Alfonsi, Elisena Morizio and Paolo Guanciali Franchi Tags: Case Report Source Type: research
Mechanisms of structural chromosomal rearrangement formation
Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that may lead to genetic instability. Most of these rearrangements... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 14, 2022 Category: Molecular Biology Authors: Bruna Burssed, Mal ú Zamariolli, Fernanda Teixeira Bellucco and Maria Isabel Melaragno Tags: Review Source Type: research
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population
Chromosome aberrations of 10p monosomy and 10q trisomy resulting from parental pericentric inversion 10 are extremely rare, and to date, very few reports have been published on the matter. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 7, 2022 Category: Molecular Biology Authors: Jianlong Zhuang, Chunnuan Chen, Rongfu Huang, Qi Luo, Yuying Jiang, Shuhong Zeng, Yuanbai Wang and Yingjun Xie Tags: Case Report Source Type: research
Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype
Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 3, 2022 Category: Molecular Biology Authors: Jieping Song, Wei Jiang, Chengcheng Zhang and Bo Wang Tags: Research Source Type: research
Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques
Using combined fluorescence in situ hybridization (FISH) and high-throughput whole-genome sequencing (WGS) molecular cytogenetic technology, we aim to analyze the junction breakpoints of complex chromosome rea... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 19, 2022 Category: Molecular Biology Authors: Ping He, Xiaoni Wei, Yuchan Xu, Jun Huang, Ning Tang, Tizhen Yan, Chuanchun Yang and Kangmo Lu Tags: Research Source Type: research
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes
Silver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, body asymmetry and typical facial features. Clinical and mole... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 13, 2022 Category: Molecular Biology Authors: Naomi Baba, Anna Lengyel, Eva Pinti, Elzem Yapici, Isolde Schreyer, Thomas Liehr, Gy örgy Fekete and Thomas Eggermann Tags: Research Source Type: research
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities
Uniparental disomy (UPD) refers to an epigenomic abnormality in which both copies of, or a part of, a homologous pair of chromosomes are inherited from one parent. UPD arises via a number of mechanisms, includ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 26, 2022 Category: Molecular Biology Authors: Chunjiao Yu, Ying Tian, Liang Qi and Bo Wang Tags: Research Source Type: research
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies
Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, dev... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 19, 2022 Category: Molecular Biology Authors: Austin Walker, Xianfu Wang, Young Mi Kim, Xianglan Lu, Ashley Taylor, Danielle Demarzo, Shibo Li and Hui Pang Tags: Review Source Type: research
Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report
Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidi... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 2, 2022 Category: Molecular Biology Authors: Hana Sahinbegovic, Stephanie Andres, Sabine Langer-Freitag, Aspasia Divane, Fotini Ieremiadou, Senad Mehmedbasic and Aida Catic Tags: Case Report Source Type: research
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
Ring chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material. They may also be formed by telomere-telomere fusions with no deletion, ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 31, 2022 Category: Molecular Biology Authors: Hunjin Luo, Liu Ni, Yi-Qiong Yang, Xiao-Min Zhang, Hongping Huang, Sainan Tan, Chen Ling, Li Liang, Ling Wang, Tang Dan, Shu-Xiang Zhou and Chunliu Yang Tags: Case Report Source Type: research
Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome
Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Especially CNVs identified in prenatal cases need careful considerations and correct interpretation if those are ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 26, 2022 Category: Molecular Biology Authors: Huili Luo, Linlin Liu and Yuexiang Feng Tags: Case Report Source Type: research
Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22) —Case Report
Maternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small supernumerary marker chromosome as derivative (22)inherited to the proband is n... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 26, 2022 Category: Molecular Biology Authors: H. C. Manju, Supriya Bevinakoppamath, Deepa Bhat, Akila Prashant, Jayaram S. Kadandale and P. V. V. Gowri Sairam Tags: Case Report Source Type: research
Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype
Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either gains or lo... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 24, 2022 Category: Molecular Biology Authors: Miaomiao Han, Lei Wei, Fang Liu and Xia Gao Tags: Case Report Source Type: research
New insights regarding origin of monosomy occurrence in early developing embryos as demonstrated in preimplantation genetic testing
Analyses of miscarriage products indicate that the majority of aneuploidies in early developing embryos derive from errors occurring during maternal meiosis and the paternal contribution is less than 10%. Our ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 21, 2022 Category: Molecular Biology Authors: N. Samara, S. Peleg, T. Frumkin, V. Gold, H. Amir, Einat Haikin Herzberger, A. Reches, Y. Kalma, Dalit Ben Yosef, F. Azem and M. Malcov Tags: Research Source Type: research
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders
Unbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells. Mosaic unbalanced translocations are extremely rare with a highly variable... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 5, 2022 Category: Molecular Biology Authors: Xiaolin Hu, Elizabeth K. Baker, Jodie Johnson, Stephanie Balow, Loren D. M. Pena, Laura K. Conlin, Qiaoning Guan and Teresa A. Smolarek Tags: Case Report Source Type: research
