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11p13 microduplication: a differential diagnosis of Silver–Russell syndrome? Mol. Cytogenet. (IF 1.3) Pub Date : 2024-03-14 Asmaa K. Amin, Jeremias Krause, Thomas Eggermann
Silver–Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms. The majority of patients shows a hypomethylation of the imprinting center region 1 (IC1) in 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat), but in addition a broad spectrum of copy number
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Identification of chromosomal abnormalities in miscarriages by CNV-Seq Mol. Cytogenet. (IF 1.3) Pub Date : 2024-02-18 Yuqi Shao, Saisai Yang, Lin Cheng, Jie Duan, Jin Li, Jiawei Kang, Fang Wang, Juan Liu, Fang Zheng, Jianhong Ma, Yuanzhen Zhang
The primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential pathways or genes related to miscarriages, and provide guidance for birth health in the following pregnancies. This study enrolled 580 miscarriage cases with paired clinical information and chromosomal detection results analyzed by CNV-Seq
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Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study Mol. Cytogenet. (IF 1.3) Pub Date : 2024-01-30 Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng
Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750 K array analysis. We evaluated both chromosome G-banding karyotyping data and CMA results from 2007 cases subjected to amniocentesis. The detection rate
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Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study Mol. Cytogenet. (IF 1.3) Pub Date : 2024-01-04 Shaobin Lin, Shanshan Shi, Jian Lu, Zhiming He, Danlun Li, Linhuan Huang, Xuan Huang, Yi Zhou, Yanmin Luo
The contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in few prenatal fetus cohorts. Overall, specific genetic variants especially copy number variants (CNVs) leading to CHDs are somewhat diverse among different prenatal cohort studies. In this study, a total of 1118 fetuses with confirmed CHDs were recruited from three
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Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review Mol. Cytogenet. (IF 1.3) Pub Date : 2024-01-03 Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu, Fang Liu
Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported two new cases of upd(6)mat and reviewed the literature of previous cases. Both cases exhibited intrauterine growth restriction (IUGR), and genetic analysis confirmed upd(6)mat in each case. The literature
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Characteristics and clinical evaluation of X chromosome translocations Mol. Cytogenet. (IF 1.3) Pub Date : 2023-12-21 Ning Huang, Jihui Zhou, Wan Lu, Laipeng Luo, Huizhen Yuan, Lu Pan, Shujun Ding, Bicheng Yang, Yanqiu Liu
Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study. These characteristics are related to differential breakpoints and various types of chromosomal abnormalities. To investigate the effects of X chromosome translocation on clinical phenotype, a retrospective analysis of clinical data for patients with X chromosome
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Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses Mol. Cytogenet. (IF 1.3) Pub Date : 2023-12-06 Shengfang Qin, Xueyan Wang, Jin Wang, Na Xi, Mengjia Yan, Yuxia He, Mengling Ye, Zhuo Zhang, Yan Yin
Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these chromosome abnormalities because of their highly heterogeneous clinical manifestations and limited phenotype attainable by ultrasound. Amniotic fluid samples were collected from four cases. Karyotype
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Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere Mol. Cytogenet. (IF 1.3) Pub Date : 2023-11-30 Liselot van der Laan, Daniel R. Hoekman, Esther J. Wortelboer, Marcel M. A. M. Mannens, Angelique J. A. Kooper
In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis of a chorionic villus sample in a fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing
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Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency Mol. Cytogenet. (IF 1.3) Pub Date : 2023-11-29 Shengfang Qin, Jiuzhi Zeng, Jin Wang, Mengling Ye, Qin Deng, Xueyan Wang, Zhuo Zhang, Dangying Yi, Yang Wu, Jesse Li-Ling
Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype. Occasionally, they may also have heterogeneous features due to non-random inactivation of the X chromosome. The peripheral blood sample was collected from the patient and subjected
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Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement Mol. Cytogenet. (IF 1.3) Pub Date : 2023-11-27 Joel Lanceta, Joseph Tripodi, Lynne Karp, Meira Shaham, Nayyara Mahmood, Vesna Najfeld, Morris Edelman, Ninette Cohen
Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majority of which involve the pleomorphic adenoma gene 1 (PLAG1) proto-oncogene on chromosome 8q12. Here, we report on a LPB case on which showed evidence of chromothripsis. This is the second reported
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Cytogenomic features of Richter transformation Mol. Cytogenet. (IF 1.3) Pub Date : 2023-11-08 Renata Woroniecka, Grzegorz Rymkiewicz, Zbigniew Bystydzienski, Barbara Pienkowska-Grela, Jolanta Rygier, Natalia Malawska, Katarzyna Wojtkowska, Nikolina Goral, Katarzyna Blachnio, Marcin Chmielewski, Magdalena Bartnik-Glaska, Beata Grygalewicz
Richter transformation (RT) is the development of aggressive lymphoma in patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). This rare disease is characterised by dismal prognosis. In recent years, there has been a deeper understanding of RT molecular pathogenesis, and disruptions of apoptosis (TP53) and proliferation (CDKN2A, MYC, NOTCH1) has been described as typical
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Prenatal diagnosis and perinatal outcomes of twin pregnancies disharmonious for one fetus with nuchal translucency above the 95th percentile Mol. Cytogenet. (IF 1.3) Pub Date : 2023-11-01 You Wang, Hang Zhou, Fang Fu, Ken Cheng, Ruibin Huang, Ru Li, Dongzhi Li, Can Liao
To assess prenatal diagnosis and pregnancy outcomes in twin pregnancies where one fetus has nuchal translucency (NT) above the 95th percentile. In this retrospective analysis, 130 twin pregnancies (260 fetuses) in which one twin had an NT measurement above the 95th percentile while that of the other twin was normal were analyzed. Prenatal diagnostic results such as G bands, chromosomal microarray analysis
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Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs Mol. Cytogenet. (IF 1.3) Pub Date : 2023-10-28 Yong Xu, Siqi Hu, Liyuan Chen, Ying Hao, Hu Zhang, Zhiyong Xu, Weiqing Wu, Liyanyan Deng
To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT). The study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT. Results of NT, NIPT, chromosomal diagnostic and pregnancy outcomes were collected. Study group was composed of 1470 single pregnancies, including 864 with NT 2.5–2.9 mm, 350 with NT 3.0–3
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Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family Mol. Cytogenet. (IF 1.3) Pub Date : 2023-10-25 Yanan Wang, Pai Zhang, Yuqiong Chai, Weiwei Zang
This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family. The proband, a 23-year-old female, exhibited a diminutive cornea and complete blindness in her right eye, and the uncorrected distance visual acuity of her left eye was 0.7 LogMAR. Peripheral blood chromosome karyotyping reveal a karyotype of 47, XX, + mar. Subsequent analysis of chromosome copy number
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Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports Mol. Cytogenet. (IF 1.3) Pub Date : 2023-10-19 Hui Tang, Jingjing Hu, Ling Liu, Lijuan Lv, Jian Lu, Jiexia Yang, Jiaqi Lu, Zhenhui Chen, Chaoxiang Yang, Dan Chen, Jintao Fu, Jing Wu
Down syndrome myeloid hyperplasia includes transient abnormal myelopoiesis (TAM) and the myeloid leukemia associated with Down syndrome (ML-DS). The mutation of GATA1 gene is essential in the development of Down syndrome combined with TAM or ML-DS. Some patients with TAM are asymptomatic and may also present with severe manifestations such as hepatosplenomegaly and hydrops. We report two cases of prenatally
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What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping? Mol. Cytogenet. (IF 1.3) Pub Date : 2023-09-29 Laura J. C. M. van Zutven, Jona Mijalkovic, Monique van Veghel-Plandsoen, Margaret Goense, Marike Polak, Maarten F. C. M. Knapen, Sabina de Weerd, Marieke Joosten, Karin E. M. Diderich, Lies H. Hoefsloot, Diane Van Opstal, Malgorzata I. Srebniak
Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal testing (NIPT) in case of recurrent pregnancy loss could be a more efficient way to identify couples at increased risk for carrying a balanced chromosome rearrangement. The aim of this study
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Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization Mol. Cytogenet. (IF 1.3) Pub Date : 2023-09-19 Rong Wei, Jingran Li, Yuanyuan Xia, Chaohong Wang, Xinran Lu, Yuqin Fang, Jiansheng Zhu
Many clinical studies based on spontaneous pregnancies (SPs) have demonstrated the superiority of non-invasive prenatal testing (NIPT), and the question of whether this technology is suitable for offspring conceived by assisted reproductive technology has attracted attention. This study aimed to evaluate the application value of NIPT in screening for trisomy (T)21, T18, T13 and sex chromosome aneuploidy
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Cytogenetic profile of 1791 adult acute myeloid leukemia in India Mol. Cytogenet. (IF 1.3) Pub Date : 2023-09-16 Vivi M. Srivastava, Sukesh Chandran Nair, Marimuthu Sappani, Marie-Therese Manipadam, Uday P. Kulkarni, Anup J. Devasia, N. A. Fouzia, Anu Korula, Kavitha M. Lakshmi, Aby Abraham, Alok Srivastava
Cytogenetic analysis continues to have an important role in the management of acute myeloid leukemia (AML) because it is essential for prognostication. It is also necessary to diagnose specific categories of AML and to determine the most effective form of treatment. Reports from South Asia are few because the availability of cytogenetic services is relatively limited. We performed a retrospective analysis
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Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis Mol. Cytogenet. (IF 1.3) Pub Date : 2023-09-04 Yang Yang, Wang Hao
Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis. The presence of sSMC poses a challenge for genetic counselling. We obtained the clinical information of 25 cases with sSMC. The fetal samples were subjected to multiple molecular
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Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency Mol. Cytogenet. (IF 1.3) Pub Date : 2023-09-02 Hang Zhou, Xin Yang, CuiXing Yi, Huizhu Zhong, Simin Yuan, Min Pan, Dongzhi Li, Can Liao
To evaluate the prenatal and perinatal outcome of fetuses with extremely large nuchal translucency (eNT) thickness (≥ 6.5 mm). 193 (0.61%) singleton fetuses with eNT were retrospectively included. Anomaly scan, echocardiography, and chromosomal and genetic test were included in our antenatal investigation. Postnatal follow-up was offered to all newborns. Major congenital anomalies included congenital
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A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome Mol. Cytogenet. (IF 1.3) Pub Date : 2023-08-30 Sifeng Wang, Shuyuan Yan, Jingjun Xiao, Ying Chen, Anji Chen, Aimin Deng, Tuanmei Wang, Jun He, Xiangwen Peng
Wiedemann–Steiner syndrome (WDSTS) is a rare autosomal dominant disorder caused by mutations in the KMT2A gene and is usually characterized by hairy elbows, short stature, developmental delay, intellectual disability and obvious facial dysmorphism. Here, we report a 5-year-old girl with clinical features similar to WDSTS, including postnatal growth delay, retarded intellectual development, and ocular
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Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction Mol. Cytogenet. (IF 1.3) Pub Date : 2023-08-23 Xuemei Tan, Bailing Liu, Tizhen Yan, Xiaobao Wei, Yanfeng Qin, Dingyuan Zeng, Dejian Yuan
Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this study, we report two cases of UPD for chromosome 2 (UPD2) encountered during prenatal diagnosis. The ultrasound findings of the fetuses from two unrelated families showed intrauterine growth restriction
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A novel approach for direct detection of the IGH::CRLF2 gene fusion by fluorescent in situ hybridization Mol. Cytogenet. (IF 1.3) Pub Date : 2023-08-13 Rosa María González-Arreola, Adriana García-Romero, María Teresa Magaña-Torres, Juan Ramón González-García
High expression of the Cytokine Receptor-Like Factor 2 (CRLF2) gene has been observed in patients with acute lymphoblastic leukemia BCR-ABL1-like subtype. Currently, there is no commercial system available for the direct detection of the IGH::CRLF2 fusion by fluorescent in situ hybridization (FISH), as there are for many other leukemia-related gene fusions. In an effort to verify the IGH::CRLF2 fusion
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Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review Mol. Cytogenet. (IF 1.3) Pub Date : 2023-08-02 Jianlong Zhuang, Shufen Liu, Xinying Chen, Yuying Jiang, Chunnuan Chen
Isolated terminal 4q35.2 microdeletion is an extremely rare copy number variant affecting people all over the world. To date, researchers still have controversial opinions and results on its pathogenicity. Here, we aim to present a Chinese pediatric patient with terminal 4q35.2 microdeletion and use this case to clarify the underlying genotype–phenotype correlation. A 17-year-old boy from Quanzhou
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Investigating residual leukemic cells in acute lymphoblastic leukemia: a practical approach using a streamlined interphase fluorescence in situ hybridization method on cerebrospinal fluid Mol. Cytogenet. (IF 1.3) Pub Date : 2023-07-27 Knarik Karapetyan, Mane Gizhlaryan, Olga Kalinovskaia, Anna Hovhannisyan, Gohar Tadevosyan, Lilit Matinyan, Gevorg Tamamyan, Narine Ghazaryan
A precise diagnosis of central nervous system involvement in acute lymphoblastic leukemia (ALL) requires comprehensive knowledge of morphological analysis, with a focus on the quantity and quality of cells being examined. Some research has utilized techniques such as immunocytochemistry, flow cytometry, polymerase chain reaction (PCR), and interphase fluorescence in situ hybridization (iFISH) on cerebrospinal
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Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results Mol. Cytogenet. (IF 1.3) Pub Date : 2023-07-14 Qinfei Zhao, Jing Chen, Ling Ren, Huijuan Zhang, Dedong Liu, Xuxiang Xi, Xiangsheng Wu, Chunyun Fang, Ping Ye, Shaoying Zeng, Tianyu Zhong
Non-invasive prenatal testing (NIPT) using cell-free DNA has been widely used for prenatal screening to detect the common fetal aneuploidies (such as trisomy 21, 18, and 13). NIPT has been shown to be highly sensitive and specific in previous studies, but false positives (FPs) and false negatives (FNs) occur. Although the prevalence of FN NIPT results for Down syndrome is rare, the impact on families
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17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation Mol. Cytogenet. (IF 1.3) Pub Date : 2023-07-10 Nikhil Shri Sahajpal, David H. F. Jeffrey, Barbara R. DuPont, Benjamin Hilton
Copy number variants (CNVs) have been identified as common genomic variants that play a significant role in inter-individual variability. Conversely, rare recurrent CNVs have been found to be causal for many disorders with well-established genotype–phenotype relationships. However, the phenotypic implications of rare non-recurrent CNVs remain poorly understood. Herein, we re-investigated 18,542 cases
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BCR::ABL1-like acute lymphoblastic leukaemia: a single institution experience on identification of potentially therapeutic targetable cases Mol. Cytogenet. (IF 1.3) Pub Date : 2023-07-03 Anna Płotka, Anna Przybyłowicz-Chalecka, Maria Korolczuk, Zuzanna Kanduła, Błażej Ratajczak, Jolanta Kiernicka-Parulska, Anna Mierzwa, Katarzyna Godziewska, Małgorzata Jarmuż-Szymczak, Lidia Gil, Krzysztof Lewandowski
BCR::ABL1-like acute lymphoblastic leukaemia (BCR::ABL1-like ALL) is characterized by inferior outcomes. Current efforts concentrate on the identification of molecular targets to improve the therapy results. The accessibility to next generation sequencing, a recommended diagnostic method, is limited. We present our experience in the BCR::ABL1-like ALL diagnostics, using a simplified algorithm. Out
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Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array Mol. Cytogenet. (IF 1.3) Pub Date : 2023-07-03 Lili Zhou, Huanzheng Li, Chenyang Xu, Xueqin Xu, Zhaoke Zheng, Shaohua Tang
With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent. This study involved a retrospective analysis of SNP array testing on 4512 prenatal diagnosis samples, wherein the characterization of mosaicism was explored and insights were gained into the underlying
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Genome-wide detection of CNV regions between Anqing six-end-white and Duroc pigs Mol. Cytogenet. (IF 1.3) Pub Date : 2023-07-03 Rong Qian, Fei Xie, Wei Zhang, JuanJuan Kong, Xueli Zhou, Chonglong Wang, Xiaojin Li
Anqing six-end-white pig is a native breed in Anhui Province. The pigs have the disadvantages of a slow growth rate, low proportion of lean meat, and thick back fat, but feature the advantages of strong stress resistance and excellent meat quality. Duroc pig is an introduced pig breed with a fast growth rate and high proportion of lean meat. With the latter breed featuring superior growth characteristics
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Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations Mol. Cytogenet. (IF 1.3) Pub Date : 2023-06-11 Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge, Benchang Li, Ying Yang
Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic presentation. Copy-number variations in chromosome 6, such as independent 6p deletion and 6p duplication, have been reported in several live-born infants and present widespread
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Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray Mol. Cytogenet. (IF 1.3) Pub Date : 2023-06-10 Erica Soster, John Tynan, Clare Gibbons, Wendy Meschino, Jenna Wardrop, Eyad Almasri, Stuart Schwartz, Graham McLennan
Noninvasive prenatal testing (NIPT) allows for screening of fetal aneuploidy and copy number variants (CNVs) from cell-free DNA (cfDNA) in maternal plasma. Professional societies have not yet embraced NIPT for fetal CNVs, citing a need for additional performance data. A clinically available genome-wide cfDNA test screens for fetal aneuploidy and CNVs larger than 7 megabases (Mb). This study reviews
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Preimplantation genetic testing for Aicardi–Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth Mol. Cytogenet. (IF 1.3) Pub Date : 2023-06-05 Huiling Xu, Jiajie Pu, Suiling Lin, Rui Hu, Jilong Yao, Xuemei Li
Aicardi–Goutières syndrome (AGS) is a rare, autosomal recessive, hereditary neurodegenerative disorder. It is characterized mainly by early onset progressive encephalopathy, concomitant with an increase in interferon-α levels in the cerebrospinal fluid. Preimplantation genetic testing (PGT) is a procedure that could be used to choose unaffected embryos for transfer after analysis of biopsied cells
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Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene Mol. Cytogenet. (IF 1.3) Pub Date : 2023-05-22 Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused by EXT1 and EXT2 loss of function mutations. Most pathogenic mutations are nonsense followed by missense mutations and deletions. Here we report on a patient with a rare and complex
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Comprehensive analysis of three female patients with different types of X/Y translocations and literature review Mol. Cytogenet. (IF 1.3) Pub Date : 2023-05-18 Shanquan Liu, Jiemei Zheng, Xijing Liu, Yi Lai, Xuan Zhang, Tiantian He, Yan Yang, He Wang, Xuemei Zhang
X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization. This study comprehensively analyzed the clinical and genetic characteristics of three new patients with X/Y translocations. Furthermore, cases with X/Y translocations reported in the literature and studies exploring the clinical
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Population monitoring of trisomy 21: problems and approaches Mol. Cytogenet. (IF 1.3) Pub Date : 2023-05-14 Karl Sperling, Hagen Scherb, Heidemarie Neitzel
Trisomy 21 (Down syndrome) is the most common autosomal aneuploidy among newborns. About 90% result from meiotic nondisjunction during oogenesis, which occurs around conception, when also the most profound epigenetic modifications take place. Thus, maternal meiosis is an error prone process with an extreme sensitivity to endogenous factors, as exemplified by maternal age. This contrasts with the missing
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Identification of complex and cryptic chromosomal rearrangements by optical genome mapping Mol. Cytogenet. (IF 1.3) Pub Date : 2023-04-26 Shanshan Shi, Peizhi Huang, Ruiling Yan, Ruiman Li
Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered difficult to detect by routine cytogenetic methods. In this study, OGM was applied to delineate the precise chromosomal rearrangements in three cases with uncertain
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Cytogenetic culture failure and its causes in hematological disorders; a single centre perspective Mol. Cytogenet. (IF 1.3) Pub Date : 2023-02-10 Sarah Javed, Jawad Hassan, Maliha Naz, Saira Shan, Madiha Abid, Tahir Sultan Shamsi
To highlight the reasons of culture failure in bone marrow aspirate samples sent for Cytogenetic analysis and to identify the associated parameters causing this impact. This is a retrospective cross-sectional study conducted in the Clinical and Molecular Cytogenetics Laboratory of NIBD Hospital, Karachi, Pakistan. The rates of culture failure are assessed from the year 2017–2020 along with their reasons
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Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China Mol. Cytogenet. (IF 1.3) Pub Date : 2023-02-10 Yanhong Zhou, Siqi Wu, Jin Han, Li Zhen, Xin Yang, Ru Li, Yongling Zhang, Xiangyi Jing, Fucheng Li, Huishu Liu
There are a few studies on the chromosomal aberration of Ultrasound soft markers (USMs). The aim of this study was to determine the detection rate of clinically significant chromosomal abnormalities (CSCA) in fetuses with different USMs. This study included fetuses with USMs who underwent invasive prenatal diagnosis for karyotype and/or chromosomal microarray (CMA) by categorizing into two groups:
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Frequent copy number variants in a cohort of Mexican-Mestizo individuals Mol. Cytogenet. (IF 1.3) Pub Date : 2023-01-12 Sánchez, Silvia, Juárez, Ulises, Domínguez, Julieta, Molina, Bertha, Barrientos, Rehotbevely, Martínez-Hernández, Angélica, Carnevale, Alessandra, Grether-González, Patricia, Mayen, Dora Gilda, Villarroel, Camilo, Lieberman, Esther, Yokoyama, Emiy, Del Castillo, Victoria, Torres, Leda, Frias, Sara
The human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of copies in human genomes. Common CNVs have no apparent influence on the phenotype; however, some rare CNVs have been associated with phenotypic traits, depending on their size and gene content
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Cytogenomic epileptology Mol. Cytogenet. (IF 1.3) Pub Date : 2023-01-05 Iourov, Ivan Y., Gerasimov, Alexandr P., Zelenova, Maria A., Ivanova, Natalya E., Kurinnaia, Oksana S., Zabrodskaya, Yulia M., Demidova, Irina A., Barantsevich, Evgeny R., Vasin, Kirill S., Kolotii, Alexey D., Ushanov, Vseslav V., Sitovskaya, Darya A., Lobzhanidze, Timur B.-A., Iuditskaia, Maria E., Iakushev, Nikita S., Zhumatov, Muslim M., Vorsanova, Svetlana G., Samochernyh, Konstantin A.
Molecular cytogenetic and cytogenomic studies have made a contribution to genetics of epilepsy. However, current genomic research of this devastative condition is generally focused on the molecular genetic aspects (i.e. gene hunting, detecting mutations in known epilepsy-associated genes, searching monogenic causes of epilepsy). Nonetheless, chromosomal abnormalities and copy number variants (CNVs)
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Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene Mol. Cytogenet. (IF 1.3) Pub Date : 2022-12-21 Luo, Man, Gu, Xia, Zhou, Ting, Chen, Chaoli
Patients with deletions involving the long arm of chromosome 1 are rare. The PBX1 gene is located on chromosome 1q23.3. PBX1 encodes a transcription factor which promotes protein–protein interaction and plays a crucial role in several developmental processes. PBX1 haploinsufficiency had been reported to lead syndromic congenital anomalies of kidney and urinary tract (CAKUT) in humans. In this research
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Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report Mol. Cytogenet. (IF 1.3) Pub Date : 2022-12-17 Khalifa, Yousif, Hassan, Hisham Y., Weise, Anja, Liehr, Thomas, Alkhayyat, Haya
Phelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by neonatal hypotonia, developmental delay, minor dysmorphic features, seizures and behavior problems. Literature of this syndrome is scanty and confusing, and represents a challenge for pediatricians, in terms of finding the correct diagnoses. In a postnatal case with hypotonia
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A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report Mol. Cytogenet. (IF 1.3) Pub Date : 2022-12-06 Sasi, Ramakrishnan, Senft, Jamie, Spruill, Michelle, Barua, Subit, Dougaparsad, Sam, Vos, Jeffrey A., Perrotta, Peter L.
A patient with a myelodysplastic neoplasm exhibited a karyotype with multiple complex chromosome 5 rearrangements. This patient appeared to have a catastrophic cytogenetic event that manifested as a treatment-refractory aggressive form of disease, which lead to patient demise within one year. Both the clinical presentation and disease course were unusual based on the medical history and morphologic
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Molecular combing and its application in clinical settings Mol. Cytogenet. (IF 1.3) Pub Date : 2022-11-16 Wang, Yiping, Kumar, Kishore Ramesh, Liehr, Thomas
Molecular combing technology (MCT) is an effective means for stretching DNA molecules and making them thus accessible for in situ studies. MCT uses the force exerted in the process of liquid flow via surface tension to stretch DNA molecules and spread them on solid surfaces, i.e. glass cover slips. Many DNA molecules can be stretched at the same time in parallel and neatly arranged side-by-side, making
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Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype Mol. Cytogenet. (IF 1.3) Pub Date : 2022-11-03 Zhou, Yaqing, Zhang, Mingxi, Zhu, Yanmin, Zhao, Qi
Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm. A 28-year-old, gravida 1, para 0, woman underwent amniocentesis at 17 weeks of gestation because the noninvasive prenatal testing (NIPT) results revealed a 9.8 Mb
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Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype Mol. Cytogenet. (IF 1.3) Pub Date : 2022-11-03 Wang, Xuezhen, Guo, Lili, Zhang, Bei, Wu, Jiebin, Sun, Yu, Tao, Huimin, Sha, Jing, Zhai, Jingfang, Liu, Min
We describe a fetus with a 2.12-Mb terminal deleted fragment in 16q associated with alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) and lymphedema-distichiasis syndrome (LDS) and intend to provide a comprehensive prenatal management strategy for the fetuses with ACDMPV and LDS through reviewing other similar published studies. The fetus presented a series of diverse structural
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Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort Mol. Cytogenet. (IF 1.3) Pub Date : 2022-11-01 Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Kristóf, Árvai, Abonyi, Tünde, Némethi, Zaránd, Fekete, György, Haltrich, Irén
Neurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy number variations (CNVs), one of the most common genetic etiologies in affected individuals, is chromosomal microarray (CMA). However, this methodology is not yet a routine molecular cytogenetic test in many parts of the world, including Hungary. Here we report clinical
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Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH) Mol. Cytogenet. (IF 1.3) Pub Date : 2022-10-26 Banerjee, Ruby, Sotero-Caio, Cibele G., Fu, Beiyuan, Yang, Fengtang
HAP1, a near-haploid human leukemic cancer cell line is often used in combination with CRISPR-Cas9 gene editing technology for genetic screens. HAP1 carries the Philadelphia chromosome (Ph) and an additional ~ 30 Mb fragment of chromosome 15 inserted into chromosome 19. The potential use of an in vitro cell line as a model system in biomedical research studies depends on its ability to maintain genome
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Somatic mosaicism in the diseased brain Mol. Cytogenet. (IF 1.3) Pub Date : 2022-10-21 Iourov, Ivan Y., Vorsanova, Svetlana G., Kurinnaia, Oxana S., Kutsev, Sergei I., Yurov, Yuri B.
It is hard to believe that all the cells of a human brain share identical genomes. Indeed, single cell genetic studies have demonstrated intercellular genomic variability in the normal and diseased brain. Moreover, there is a growing amount of evidence on the contribution of somatic mosaicism (the presence of genetically different cell populations in the same individual/tissue) to the etiology of brain
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Observations on chromosome-specific sequencing for the construction of cross-species chromosome homology maps and its resolution of human:alpaca homology Mol. Cytogenet. (IF 1.3) Pub Date : 2022-10-07 Ferguson-Smith, Malcolm A., Pereira, Jorge C., Borges, Ana, Kasai, Fumio
The history of comparative chromosome mapping is briefly reviewed, with discussion about the problem that occurs in chromosome painting when size heteromorphisms between homologues cause contamination in chromosomes sorted by flow cytometry that are used in the preparation of chromosome-specific DNA probes. As an example, we show in the alpaca (Vicagna pacos) that sequencing of contaminated chromosome
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Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience Mol. Cytogenet. (IF 1.3) Pub Date : 2022-10-05 Elnaggar, Mohamed G., Mosad, Eman, Makboul, Ahmed, Shafik, Engy Adel
Acute myeloid leukemia (AML) is a diverse disease characterized by the expansion of blasts of myeloid lineage. Cytogenetic testing is the cornerstone for risk stratification of AML patients. Geographical and environmental factors may play a very important role in the development of leukemia and several differences in genetic profile may be seen among different ethnicities. In our study, we evaluated
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Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review Mol. Cytogenet. (IF 1.3) Pub Date : 2022-10-03 Khadija, Bochra, Rjiba, Khouloud, Dimassi, Sarra, Dahleb, Wafa, Kammoun, Molka, Hannechi, Hanen, Miladi, Najoua, Gouider-khouja, Neziha, Saad, Ali, Mougou-Zerelli, Soumaya
Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature concerning 1q43q44 deletions of varying sizes discovered using chromosomal microarrays. This disorder is distinguished by global developmental delay, seizures, hypotonia, corpus callosum defects
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Identification of a familial complex chromosomal rearrangement by optical genome mapping Mol. Cytogenet. (IF 1.3) Pub Date : 2022-09-21 Yang, Yang, Hao, Wang
Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion. With the development of cytogenetic and molecular genetic techniques, some chromosomal rearrangements that were initially considered to be simple reciprocal translocations in the past might eventually involve more complex chromosomal
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Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report Mol. Cytogenet. (IF 1.3) Pub Date : 2022-09-05 Gaviria, Anibal, Cadena-Ullauri, Santiago, Cevallos, Francisco, Guevara-Ramirez, Patricia, Ruiz-Pozo, Viviana, Tamayo-Trujillo, Rafael, Paz-Cruz, Elius, Zambrano, Ana Karina
Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII. Klinefelter syndrome is a genetic disorder that affects male individuals due to one or more extra X chromosomes, present in all cells or with mosaicism. The aneuploidy is due to either mitotic or meiotic chromosome
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Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening Mol. Cytogenet. (IF 1.3) Pub Date : 2022-09-01 Hu, Junjie, Yan, Kai, Jin, Pengzhen, Yang, Yanmei, Sun, Yixi, Dong, Minyue
So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of trisomy 8 mosaicism (T8M), which was initially identified via cffDNA screening in noninvasive prenatal testing (NIPT). A 35-year-old woman received cffDNA screening at 17th week of gestation
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Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family Mol. Cytogenet. (IF 1.3) Pub Date : 2022-09-01 Chen, Juan, Zhang, Ying, Zhang, Mingxi
Copy number variants are a substantial source of pathogenic or normal genome variations. Chromosomal imbalances of several megabasepair are normally harmful for the affected person. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either losses or gains or equally large genomic regions, but the carrier is only minimally clinically affected even no clinically
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A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes Mol. Cytogenet. (IF 1.3) Pub Date : 2022-08-21 Luo, Yan, Lu, Hezhen, Zhang, Yanshang, Cui, Zhiqiang, Zhang, Pingping, Li, Yali
Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy and childbirth. In this study, we report a patient with a history of adverse pregnancy and childbirth who exhibited complex balanced chromosomal translocations. The female patient was phenotypically
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False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests? Mol. Cytogenet. (IF 1.3) Pub Date : 2022-08-19 Liehr, Thomas
Non-invasive prenatal testing (NIPT) has had an incomparable triumph in prenatal diagnostics in the last decade. Over 1400 research articles have been published, predominantly praising the advantages of this test. The present study identified among the 1400 papers 24 original and one review paper, which were suited to re-evaluate the efficacy of > 750,000 published NIPT-results. Special attention was
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Svetlana G. Vorsanova (1945–2021) Mol. Cytogenet. (IF 1.3) Pub Date : 2022-08-19 Iourov, Ivan Y.
Les vivants ne sont que des morts qui ne sont pas encore entrés en function. Marcel Proust On 31 August, 2021, Professor Svetlana Grigorievna Vorsanova (Fig. 1), an irreplaceable member of the Molecular Cytogenetics Editorial Board, passed away. It is to note that she was among the founders of Molecular Cytogenetics and was intrinsically involved in the developing journal’s aims, scope and original