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
