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Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review Mol. Cytogenet. (IF 1.233) Pub Date : 2021-01-15 Xinyue Zhang; Fagui Yue; Qingyang Shi; Yuting Jiang; Jing He; Leilei Li; Ruizhi Liu
Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic. Three pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency and fetal pyelic separation (case 2)
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Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan Mol. Cytogenet. (IF 1.233) Pub Date : 2021-01-09 Malgorzata Ilona Srebniak; Maarten F. C. M. Knapen; Marieke Joosten; Karin E. M. Diderich; Sander Galjaard; Diane Van Opstal
Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This study shows how a patient-friendly first trimester screening for both chromosomal and structural fetal anomalies in only two outpatient visits can be provided. Genotype-first approach assures not
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Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report Mol. Cytogenet. (IF 1.233) Pub Date : 2021-01-06 Nuria Balaguer; Emilia Mateu-Brull; Roy P. Naja; Jara B. Nagi; Miguel Milán
Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce. A 33-year old gravida underwent cfDNA testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream. The ChrY pattern was comparable to an adult male reference. As a result, cfDNA testing was only informative for autosomes. Routine 20-week ultrasound scan
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Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion? Mol. Cytogenet. (IF 1.233) Pub Date : 2021-01-06 Beyhan Durak Aras; Sevgi Isik; Hava Uskudar Teke; Abdulvahap Aslan; Filiz Yavasoglu; Zafer Gulbas; Fatih Demirkan; Hulya Ozen; Oguz Cilingir; Nur Sena Inci; Gulcin Gunden; Tuba Bulduk; Ebru Erzurumluoglu Gokalp; Sinem Kocagil; Sevilhan Artan; Olga Meltem Akay
Deletion of 13q14 [del(13q)] is the most common cytogenetic change (50%) in chronic lymphoblastic leukemia (CLL), and it is a good prognostic factor if it is detected as a sole aberration by FISH. However, it is observed the clinical course of CLL cases with del(13q) are quite heterogeneous and the responsible for this clinical heterogeneity has not been established yet. Some investigators suggest
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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases Mol. Cytogenet. (IF 1.233) Pub Date : 2021-01-06 Xinran Lu; Chaohong Wang; Yuxiu Sun; Junxiang Tang; Keting Tong; Jiansheng Zhu
To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in positive cases. We retrospectively analysed 45,773 singleton pregnancies with different characteristics that were subjected to NIPT in the Maternity and Child Health Hospital of Anhui Province.
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Confined placental mosaicism of Duchenne muscular dystrophy: a case report Mol. Cytogenet. (IF 1.233) Pub Date : 2020-12-17 Max Winerdal; Eini Westenius; Michaela Granfors; Maria Pettersson; Erik Iwarsson
Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance. To the best of our knowledge, this is the first reported case of confined placental mosaicism for an intragenic Duchenne muscular dystrophy (DMD) gene deletion. We describe a pregnant woman where confined placental mosaicism for an intragenic DMD
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Detailed molecular cytogenetic characterisation of the myeloid cell line U937 reveals the fate of homologous chromosomes and shows that centromere capture is a feature of genome instability Mol. Cytogenet. (IF 1.233) Pub Date : 2020-12-14 Ruth N. MacKinnon; Joanne Peverall; Lynda J. Campbell; Meaghan Wall
The U937 cell line is widely employed as a research tool. It has a complex karyotype. A PICALM-MLLT10 fusion gene formed by the recurrent t(10;11) translocation is present, and the myeloid common deleted region at 20q12 has been lost from its near-triploid karyotype. We carried out a detailed investigation of U937 genome reorganisation including the chromosome 20 rearrangements and other complex rearrangements
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Gross genetic alterations and genetic heterogeneity in a periductal stromal tumor of the breast Mol. Cytogenet. (IF 1.233) Pub Date : 2020-11-23 Carsten Holzmann; Burkhard Helmke; Joern Bullerdiek
Periductal stromal tumors of the breast are exceedingly rare biphasic breast tumors with close morphological relationship to phyllodes tumors. So far, results of genetic analyses on these tumors have not been reported. A 50 year old female patient was admitted to the hospital because of a palpable lump in her right breast with a diameter of approximately 5–6 cm which was surgically removed by lumpectomy
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A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report Mol. Cytogenet. (IF 1.233) Pub Date : 2020-11-16 Li Gao; Junyu Zhang; Xu Han; Wenjing Hu; Jinling Sun; Yuru Tan; Xinrong Zhao; Renyi Hua; Shan Wang; Yan Zhang; Yanlin Wang; Yi Wu
Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of microarray analysis. However, the prenatal findings of 1p36 deletion syndrome are still limited. We report a fetus with 1p36 deletion and cardiac phenotype of dextrocardia
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Identification and characterization of satellite DNAs in Poa L. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-11-16 Linna Wei; Bo Liu; Chunping Zhang; Yang Yu; Xiaoxia Yang; Quanwen Dou; Quanmin Dong
Poa L. is a large genus of grass in Gramineae, among which P. pratensis is widely cultivated as turf and forage. Satellite DNA is the main components of the plant genome. Information of satellites will helpful for dissection the genome composition and definition of the phylogeny relationship of these species. However, the knowledge about the satellites in genus Poa is still limited. Four satellite
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Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report Mol. Cytogenet. (IF 1.233) Pub Date : 2020-11-13 Paola E. Leone; Verónica Yumiceba; Ariana Jijón-Vergara; Andy Pérez-Villa; Isaac Armendáriz-Castillo; Jennyfer M. García-Cárdenas; Santiago Guerrero; Patricia Guevara-Ramírez; Andrés López-Cortés; Ana K. Zambrano; Jesús M. Hernández-Rivas; Juan Luis García; César Paz-y-Miño
Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism
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De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-09-12 Abul Kalam Azad,Lindsay Yanakakis,Samantha Issleb,Jessica Turina,Kelli Drabik,Christina Bonner,Eve Simi,Andrew Wagner,Morry Fiddler,Rizwan Naeem
Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intellectual deficit. We report a 37-year-old G1P0 woman initially screened by non-invasive prenatal
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A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-09-11 Abdulsamad Wafa,Rami A Jarjour,Doaa Alolabi,Thomas Liehr,Othman Hamdan,Joana B Melo,Isabel M Carreira,Moneeb A K Othman,Walid Al-Achkar
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 cases harbor recurrent abnormalities, including so-called complex karyotypes (CK). Tumor lysis syndrome (TLS) is a metabolic abnormality which may arise during cancer therapy and also, extremely rarely
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Cytogenomic characterization of three murine malignant mesothelioma tumor cell lines. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-09-09 Eva Wahlbuhl,Thomas Liehr,Martina Rincic,Shaymaa Azawi
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 asbestos fiber exposure. As latency period after asbestos exposure ranges between ~ 10 and 60 years MMs are mainly observed in elder people. Human MM, being a rare tumor type, lacks detailed cytogenetic
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Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-09-07 Emiy Yokoyama,Camilo E Villarroel,Sinhué Diaz,Victoria Del Castillo,Patricia Pérez-Vera,Consuelo Salas,Samuel Gómez,Reneé Barreda,Bertha Molina,Sara Frias
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 features that are absent when the deletion is proximal, beyond the 1p36.32 region. In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been
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Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis Mol. Cytogenet. (IF 1.233) Pub Date : 2020-09-04 Sinhue Alejandro Brukman-Jimenez; Lucina Bobadilla-Morales; Jorge Román Corona-Rivera; Pablo Alejandro Chávez-Panduro; Citlalli Ortega-de-la-Torre; Uriel Francisco Santana-Bejarano; Elizabeth Torres-Anguiano; Lucero Mendoza-Maldonado; Fernando Antonio Sánchez-Zubieta; Alfredo Corona-Rivera
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 the diagnosis of hematological malignancies, therefore finding chromosomal aberrations provides a more reliable prognosis of the disease. Among the cytogenetic aberrations, sole trisomy is frequent
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Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review Mol. Cytogenet. (IF 1.233) Pub Date : 2020-09-03 Connor P. Craig; Emily Calamaro; Chin-To Fong; Anwar M. Iqbal; Alexander R. Paciorkowski; Bin Zhang
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. The hallmarks of this syndrome are severe developmental delay with absent verbal language, post-natal growth restriction, post-natal microcephaly, and a recognizable movement disorder characterized
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Application value of NIPT for uncommon fetal chromosomal abnormalities. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-08-28 Lianli Yin,Yinghua Tang,Qing Lu,Aiping Pan,Mingfang Shi
To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities. The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated
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Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-08-25 Chenyang Xu,Yanbao Xiang,Xueqin Xu,Lili Zhou,Huanzheng Li,Xueqin Dong,Shaohua Tang
The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis. This study aimed to evaluate 118 fetuses with CFMs by applying chromosomal microarray analysis (CMA) and G-banded chromosome analysis. Of the 118 cases in this study, 39.8% were isolated CFMs (47/118) whereas 60.2% were non-isolated CFMs (71/118). The detection
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Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-08-25 Meng Liu,Yuan Ren,Xianfu Wang,Xianglan Lu,Ming Li,Young Mi Kim,Shibo Li,Lijun Zhang
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 diagnosis and management of AML patients. Compared with recurrent chromosomal translocations in AML, t(8;16)(p11.2;p13.3) can be found in any age group but is very rare and typically associated with
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Prenatal diagnosis of mosaic trisomy 2 and literature review. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-08-25 Ting Wang,Jufei Lian,Congmian Ren,Huamei Huang,Yanlin Huang,Ling Xu,Laiping Zheng,Chanhui Cai,Li Guo
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, single nucleotide polymorphism array(SNP-array), interphase fluorescence in situ hybridization (FISH) were employed to detect the chromosomal abnormality. Cytogentic analysis of the case 1 and
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Chromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-08-20 Monika Włodarczyk,Monika Lejman
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 lymphoma (NHL) and acute lymphoblastic leukemia (ALL). NBS patients are 50 times more likely to develop malignancy than healthy controls. Moreover, in NBS, mortality rate from cancers, mainly lymphomas
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Coexistence of recurrent chromosomal abnormalities and the Philadelphia chromosome in acute and chronic myeloid leukemias: report of five cases and review of literature. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-08-19 Jin-Ying Gong,Zhen-Hao Zhang,Wei Zhang,Hui-Jun Wang,Xiao-Fang Feng,Ji Zhou,Guo-Qing Zhu
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 cases of advanced disease. Unbalanced chromosomal changes such as an extra copy of the Philadelphia chromosome (Ph), trisomy 8, and i(17)(q10) are common. Balanced chromosomal translocations
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Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-08-10 Anna Repczynska,Agata Pastorczak,Katarzyna Babol-Pokora,Jolanta Skalska-Sadowska,Malgorzata Drozniewska,Wojciech Mlynarski,Olga Haus
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, bone marrow failure, and high risk of cancer. The diagnosis is based on morphological and hematological abnormalities such as pancytopenia, macrocytic anaemia and progressive bone marrow failure
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Mapping epigenetic modifications on chicken lampbrush chromosomes. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-08-03 Tatiana Kulikova,Anna Surkova,Anna Zlotina,Alla Krasikova
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 modifications to the genome is relevant for studying the regulation of gene expression. Giant transcriptionally active lampbrush chromosomes are an established tool for high resolution physical mapping
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13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-07-23 Sabine Dittner-Moormann,Madlen Reschke,Eva Biewald,Alma Kuechler,Barbara Klein,Beate Timmermann,Dietmar Lohmann,Petra Ketteler,Deniz Kanber
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 that include the RB1 gene show a predisposition to develop retinoblastoma and variable other features. Large 13q deletions with severe clinical phenotype are nearly always the result of a
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Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-07-14 Tingting Li,Haiquan Sang,Guoming Chu,Yuanyuan Zhang,Manlong Qi,Xiaoliang Liu,Wanting Cui,Yanyan Zhao
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 usually observed first by karyotyping, and further analysis of their molecular origin is important in clinical practice. Next-generation sequencing (NGS) combined with Sanger sequencing helps
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An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-07-10 Abdulsamad Wafa,Rami A Jarjour,Abdulmunim Aljapawe,Suher ALmedania,Thomas Liehr,Joana B Melo,Isabel M Carreira,Moneeb A K Othman,Walid Al-Achkar
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 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromosomal
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Prenatal diagnosis of rearrangements in the fetal 22q11.2 region. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-07-08 Suping Li,Yuxia Jin,Jing Yang,Li Yang,Ping Tang,Chiyan Zhou,Liping Wu,Jinhua Dong,Jie Chen,Huaxiang Shen
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 are no large sample data on the prenatal detection rate for these two syndromes in the Chinese population. We recruited 411 pregnant women who showed either abnormal prenatal ultrasound findings
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Does ICSI for in vitro fertilization cause more aneuploid embryos? Mol. Cytogenet. (IF 1.233) Pub Date : 2020-07-01 Xiangli Niu,Jiamin Long,Fangqiang Gong,Weihua Wang
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 manipulation of oocytes. Oocytes are usually inseminated by intracytoplasmic sperm injection (ICSI) procedures for preimplantation genetic testing. There is still no available information whether
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Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-06-30 Jingbo Zhang,Bei Zhang,Tong Liu,Huihui Xie,Jingfang Zhai
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 translocation gamete with a normal gamete, the partial monosomy or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation
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Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-06-26 Jéssica Almeida Batista-Gomes,Fernando Augusto Rodrigues Mello,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 Khayat,André Salim Khayat
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 by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: DMBT1, KIAA0125 and PRDM16 were selected due to high frequency of CNVs in ALL samples and based on their potential
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Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-06-22 You-Zhu Li,Rong-Feng Wu,Xing-Shen Zhu,Wen-Sheng Liu,Yuan-Yuan Ye,Zhong-Xian Lu,Na Li
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 rare and severe malformed spermatospermia caused by acrosome deficiency or severe malformation. A subset of genetic mutations, such as DNAH6, SPATA16, DPY19L2, PICK1, and CCIN related to globozoospermia
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Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-06-22 Stefania Maccarini,Annamaria Cipani,Valeria Bertini,Jelena Skripac,Alessandro Salvi,Giuseppe Borsani,Eleonora Marchina
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 with additional comorbidities, typically attention deficit hyperactivity disorder (ADHD), obsessive- compulsive disorder (OCD), autism spectrum disorder (ASD) and intellectual disability (ID). Both
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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. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-06-11 Maria Clara Bonaglia,Sara Bertuzzo,Anna Maria Ciaschini,Giancarlo Discepoli,Lucia Castiglia,Romina Romaniello,Orsetta Zuffardi,Marco Fichera
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 disease gene or its cis-regulatory elements at one or both breakpoints. We describe a 10-year-old girl with a non-specific neurodevelopmental disorder characterized by moderate intellectual disability
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Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-06-10 Yinghong Lu,Yi Liang,Sisi Ning,Guosheng Deng,Yuling Xie,Jujie Song,Na Zuo,Chunfeng Feng,Yunrong Qin
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 carriers. Duplication of chromosome 15 and related disorders, characterized by hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile spasms
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A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-06-04 Hui Xi,Ying Peng,Wanqin Xie,Jialun Pang,Na Ma,Shuting Yang,Jinping Peng,Hua Wang
Copy number variants (CNVs) associated with developmental delay and intellectual disability (DD/ID) continue to be identified in patients. This article reports identification of a chromosome 1q22 microdeletion as the genetic cause in a Chinese family affected by ID. The proband was a 19-year-old pregnant woman referred for genetic counseling and prenatal diagnosis at 18 weeks of gestation. She had
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Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-05-27 Lili Zhou,Zhaoke Zheng,Lianpeng Wu,Chenyang Xu,Hao Wu,Xueqin Xu,Shaohua Tang
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 explored the molecular characteristics of sSMCs using a single nucleotide polymorphism (SNP) array. Out of the 20,481 samples, 15 abnormal karyotypes with sSMC were detected (frequency: 0.073%) and
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Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-05-25 Yiming Qi,Jiexia Yang,Yaping Hou,Rong Hu,Dongmei Wang,Haishan Peng,Aihua Yin
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 screening for CNVs are still unknown. Here, we discuss some special conditions in which both cases simultaneously exhibited false positives caused by maternal CNVs and false negatives due to
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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. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-05-19 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
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, fifth finger clinodactyly
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Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-05-07 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 to be unstable. As a result, dynamic
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Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-05-06 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
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Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-04-16 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, 14 and 15. To our knowledge
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A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-04-10 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). In particular
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Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-04-10 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 interstitial deletion sharing the common deleted
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Copy number variations associated with fetal congenital kidney malformations Mol. Cytogenet. (IF 1.233) Pub Date : 2020-03-24 Meiying Cai; Na Lin; Linjuan Su; Xiaoqing Wu; Xiaorui Xie; Ying Li; Xuemei Chen; Yuan Lin; Hailong Huang; Liangpu Xu
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 to search for evidence of a
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Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma Mol. Cytogenet. (IF 1.233) Pub Date : 2020-03-12 Yipeng Wang; Shanshan Li; Wei Wang; Yuan Dong; Meng Zhang; Xin Wang; Chenghong Yin
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 clinical data are still limited. High-throughput massively parallel genomic sequencing (MPS) technique was used to screen for fetal SCAs as part of the research to determine the potential value
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Non-invasive prenatal screening for Emanuel syndrome Mol. Cytogenet. (IF 1.233) Pub Date : 2020-03-04 Yuqin Luo; Jie Lin; Yixi Sun; Yeqing Qian; Liya Wang; Min Chen; Minyue Dong; Fan Jin
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. NIPS was performed to diagnose the Emanuel syndrome. Amniocentesis or cordocentesis was performed to confirm the positive screening result of Emanuel syndrome cases
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Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-02-17 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 diagnosed BCR-ABL1-negative
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Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-02-11 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 two fetuses. Case
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Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-02-06 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. Results The fetal abnormal karyotype
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Non-invasive prenatal test to screen common trisomies in twin pregnancies. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-02-05 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 extensively assessed in singleton
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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. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-01-30 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 reported, but most of them were studied by chromosome and
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Chromoanagenesis: a piece of the macroevolution scenario. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-01-28 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 under the term of chromoanagenesis.
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Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities. Mol. Cytogenet. (IF 1.233) Pub Date : 2020-01-23 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 pregnant women who underwent cordocentesis and explored
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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 Mol. Cytogenet. (IF 1.233) Pub Date : 2020-01-02 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
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 mechanisms of somatic genetic rescue. The literature offers few expression studies on SDS
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Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes Mol. Cytogenet. (IF 1.233) Pub Date : 2019-12-27 Yang Yang; Wang Hao
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 genotype-phenotype correlations. The clinical
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Laundering CNV data for candidate process prioritization in brain disorders Mol. Cytogenet. (IF 1.233) Pub Date : 2019-12-26 Maria A. Zelenova; Yuri B. Yurov; Svetlana G. Vorsanova; Ivan Y. Iourov
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 dysfunction. Here, we propose a “CNV data laundering” algorithm
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A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing Mol. Cytogenet. (IF 1.233) Pub Date : 2019-12-21 Ganye Zhao; Peng Dai; Shanshan Gao; Xuechao Zhao; Conghui Wang; Lina Liu; Xiangdong Kong
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, the segmental deletions and duplications should also be concerned. Except that