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Journal Mol Cytogenet

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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.

Juan Pablo Meza-Espinoza, Enrique Sáinz 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, Verónica Judith Picos-Cárdenas,

BackgroundConcomitant 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 retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:]

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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.

Juan Pablo Meza-Espinoza, Enrique Sáinz 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, Verónica Judith Picos-Cárdenas,

Background: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 retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:17]

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Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging.

Svetlana G Vorsanova, Yuri B Yurov, Ivan Y Iourov,

Background: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 wide spectrum of disease conditions and aging. Studying somatic genome variations has indicated that amounts of chromosomally abnormal cells are likely ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:16]

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Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies.

Ya-Qi Tan, Yue-Qiu Tan, De-Hua Cheng,

Background: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 should be exercised in genetic counseling and reproductive intervention because cryptic unbalanced defects and genome structural variations beyond the resolution of routine cytogenetics may not ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:15]

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Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report.

Ramakrishnan Sasi, Jamie Senft, Michelle Spruill, Soham Rej, Peter L Perrotta,

Background: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 analysis of metaphases prepared from bone marrow, peripheral blood and cultured skin tissue cells. These showed only 44 chromosomes with DRT involving chromosomes 13, ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:14]

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A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome.

Yongming Liu, Junqing Xu, Lina Chu, Limei Yu, Yanhong Zhang, Li Ma, Weihua Wang, Yangyang Zhang, Yimin Xu, Riming Liu,

Background: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 the prognostic significance is still unclear. Case presentation:We present the case of a patient with t(15;17)(q22;q21), der(15)t(15;17) and ider(17)(q10)t(15;17)(q22;q21). ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2020, 13:13]

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Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array.

Pingping Zhang, Yanmei Sun, Ping Huo, Haishen Tian, Jian Gao, Yali Li,

Background: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 poses a great challenge for genetic counselling. Terminal deletion of the long arm of chromosome 4 is a rare genetic aberration. Few cases of ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2020, 13:12]

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Copy number variations associated with fetal congenital kidney malformations.

Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu,

Background: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 study aimed to evaluate the applicability of single-nucleotide polymorphism (SNP) array test in prenatal diagnosis of RHD for improving prenatal genetic counseling and ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:11]

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Non-invasive prenatal screening for Emanuel syndrome.

Yuqin Luo, Jie Lin, Yixi Sun, Yeqing Qian, Liya Wang, Min Chen, Minyue Dong, Fan Jin,

Objective: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 chromosome microduplication detection. Methods:NIPS was performed to diagnose the Emanuel syndrome. Amniocentesis or cordocentesis was performed to confirm the positive ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2020, 13:9]

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Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms.

Xiaolan Lin, Huifang Huang, Ping Chen,

Background: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 center. Methods:Retrospective analysis of routine karyotype analysis results, driver gene mutations and other related clinical parameters of 172 patients with newly ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:8]

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Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome.

Si He, Hui Xi, Jing Chen, Dan Wang, Jialun Pang, Jiancheng Hu, Qin Liu, Zhengjun Jia, Hua Wang,

Background: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 (SNP array), fluorescence in situ hybridization (FISH), and sequence-tagged sites (STS) analysis of the Y chromosome to determine the rare molecular genetics of the ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:7]

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Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.

J B Wu, J Sha, J F Zhai, Y Liu, B Zhang,

Objective:This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound. Methods:The chromosome rearrangements in the fetus were characterized by G-banding and chromosome microarray analysis based on single nucleotide polymorphism (SNP) array of cultured amniocytes and compared with the parents' karyotypes. ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2020, 13:6]

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Non-invasive prenatal test to screen common trisomies in twin pregnancies.

Mahtab Motevasselian, Soraya Saleh Gargari, Sarang Younesi, Parichehr Pooransari, Pourandokht Saadati, Masoomeh Mirzamoradi, Shahram Savad, Mohammad Mahdi Taheri Amin, Mohammad-Hossein Modarresi, Maryam Afrakhteh, Soudeh Ghafouri-Fard,

Objectives: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 gained a considerable deal of interest from both geneticists and obstetricians. Efficacy of this method in identification of common aneuploidies has been ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:5]

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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.

Lili Lv, Jingwei Yu, Zhongxia Qi,

Background: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 favorable overall survival (OS) when treated with high-dose Cytarabine. At the inversion breakpoints, deletion of 3'CBFB has been ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:4]

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Chromoanagenesis: a piece of the macroevolution scenario.

Franck Pellestor, Vincent Gatinois,

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 with congenital diseases and healthy individuals. These unanticipated phenomena are named chromothripsis, chromoanasynthesis and chromoplexy, and are grouped ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:3]

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Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities.

Yanmei Sun, Pingping Zhang, Ning Zhang, Limin Rong, Xiaoping Yu, Xianghua Huang, Yali Li,

Background: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 at high risk for chromosomal abnormalities. In this study, we investigated 3387 umbilical cord blood samples for karyotyping from ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2020, 13:2]

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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.

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 Danesino, Franco Locatelli, Emanuela Maserati, Francesco Pasquali, Roberto Valli,

Background: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), and an interstitial deletion of the long arm of chromosome 20, del (20)(q). These two imbalances are ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2020, 13:1]

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Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes.

Yang Yang, Wang Hao,

Background: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 phenotypes vary widely. Therefore, we present six patients prenatally diagnosed with isodicentric Y chromosomes and review the literature concerning the ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2019, 12:55]

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Laundering CNV data for candidate process prioritization in brain disorders.

Maria A Zelenova, Yuri B Yurov, Svetlana G Vorsanova, Ivan Y Iourov,

Background: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 disorders represent a major focus of genomic research aimed at revealing pathologic significance of genomic changes leading to brain ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2019, 12:54]

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A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing.

Ganye Zhao, Peng Dai, Shanshan Gao, Xuechao Zhao, Conghui Wang, Lina Liu, Xiangdong Kong,

Background: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. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. However, ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2019, 12:53]

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The variome concept: focus on CNVariome.

Ivan Y Iourov, Svetlana G Vorsanova, Yuri B Yurov,

Background: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 diseases, studies of genetic causes of a disease are usually dedicated to the identification of single causative genomic changes ... Read more >>

Mol Cytogenet (Molecular cytogenetics)
[2019, 12:52]

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A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.

Jianlong Zhuang, Yuanbai Wang, Shuhong Zeng, Chunling Lv, Yiming Lin, Yuying Jiang,

Background: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 CNVs in chromosome Xp22.31 was explored. Methods:G-banding and SNP-array techniques were used to analyze chromosome karyotypes and CNVs in fetuses. Parents ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2019, 12:50]

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A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.

Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao,

Background: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 were identified. Case presentation:We performed whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) for a patient with mild speech ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2019, 12:51]

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Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li, Yuan Wei, Qiang Zhang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo, Zailong Qin,

Background:Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2019, 12:49]

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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis,

Background:Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening of monogenic diseases. In this study, we present the development and validation of a single comprehensive NIPT for prenatal screening of ... Read more >>

Mol Cytogenet (Molecular Cytogenetics)
[2019, 12:48]

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