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Clinical genetics

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Pre- or postnatally detected, genetically caused inborn syndromes make a huge contribution to the global burden of such diseases. This section welcomes articles exploring the role of microscopically visible and submicroscopic chromosomal aberrations across the whole spectrum of correspondingly caused clinical genetic syndromes. Studies on the formation of derivative chromosomes are more than welcome. Single case reports need to provide a comprehensive review of the literature of comparable cases. Of special interest are studies on small supernumerary marker chromosomes and complex chromosomal rearrangements including karyotype chaos and chromosomal mosaicism.

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  1. Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found ...

    Authors: Eini Westenius, Maria Pettersson and Erik Björck

    Citation: Molecular Cytogenetics 2021 14:30

    Content type: Case Report

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  2. Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations.

    Authors: Qiao-Yan Shao, Pei-Lin Wu, Bi-Yun Lin, Sen-Jing Chen, Jian Liu and Su-Qing Chen

    Citation: Molecular Cytogenetics 2021 14:29

    Content type: Case Report

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  3. Discordance between traditional cytogenetic and molecular cytogenetic tests is rare but not uncommon. The explanation of discordance between two genetic methods is difficult but especially important for geneti...

    Authors: Shaobin Lin, Shufang Huang, Xueling Ou, Heng Gu, Yonghua Wang, Ping Li and Yi Zhou

    Citation: Molecular Cytogenetics 2021 14:26

    Content type: Case Report

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  4. Although a few studies have investigated a possible association between maternal age and fetal sex chromosome aneuploidies (SCAs), most of these studies were limited to advanced maternal age (AMA) women and th...

    Authors: Hongge Li, Yuchan Mao and Jinglei Jin

    Citation: Molecular Cytogenetics 2021 14:25

    Content type: Research

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  5. Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). This disease is characterized by hypercalcemia, hypercalciuria ...

    Authors: Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou and Anne-Claire Bréhin

    Citation: Molecular Cytogenetics 2021 14:23

    Content type: Case Report

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  6. Aneuploidy is the most frequent cause of early-embryo abortion. Any defect in chromosome segregation would fail to satisfy the spindle assembly checkpoint (SAC) during mitosis, halting metaphase and causing an...

    Authors: Juan Zhao, Hui Li, Guangxin Chen, Lijun Du, Peiyan Xu, Xiaoli Zhang, Min Xie, Tiansheng Cao and Haibo Li

    Citation: Molecular Cytogenetics 2021 14:22

    Content type: Research

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  7. The OncoScan microarray assay (OMA) using highly multiplexed molecular inversion probes for single nucleotide polymorphism (SNP) loci enabled the detection of cytogenomic abnormalities of chromosomal imbalance...

    Authors: Jiadi Wen, Brittany Grommisch, Autumn DiAdamo, Hongyan Chai, Sok Meng Evelyn Ng, Pei Hui, Allen Bale, Winifred Mak, Guilin Wang and Peining Li

    Citation: Molecular Cytogenetics 2021 14:21

    Content type: Research

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  8. The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This stud...

    Authors: Lili Zhou, Zhaoke Zheng, Yunzhi Xu, Xiaoxiao Lv, Chenyang Xu and Xueqin Xu

    Citation: Molecular Cytogenetics 2021 14:19

    Content type: Research

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  9. Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.

    Authors: Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, Anna Kucińska-Chahwan, Nathalie Brison, Kris Van Den Bogaert, Tomasz Roszkowski, Marta Kędzior, Magdalena Bartnik-Głaska, Alicja Łuszczek, Krystyna Jakubów-Durska, Joris Robert Vermeesch and Beata Anna Nowakowska

    Citation: Molecular Cytogenetics 2021 14:18

    Content type: Case Report

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  10. Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. ...

    Authors: Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai and Jie Chen

    Citation: Molecular Cytogenetics 2021 14:14

    Content type: Research

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  11. Small supernumerary marker chromosomes (sSMCs) are additional derivative chromosomes present in an otherwise numerically and structurally normal karyotype. They may derive from each of the 24 human chromosomes...

    Authors: Thomas Liehr, Heather E. Williams, Monika Ziegler, Stefanie Kankel, Niklas Padutsch and Ahmed Al-Rikabi

    Citation: Molecular Cytogenetics 2021 14:13

    Content type: Research

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  12. Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype–phenotype correlation; we car...

    Authors: Khouloud Rjiba, Hédia Ayech, Olfa Kraiem, Wafa Slimani, Afef Jelloul, Imen Ben Hadj Hmida, Nabiha Mahdhaoui, Ali Saad and Soumaya Mougou-Zerelli

    Citation: Molecular Cytogenetics 2021 14:12

    Content type: Research

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  13. Small supernumerary marker chromosomes (sSMC) are a heterogeneous group of structurally abnormal chromosomes, with an incidence of 0,044% in newborns that increases up to almost 7 times in developmentally reta...

    Authors: Eleonora Marchina, Michela Forti, Mariella Tonelli, Stefania Maccarini, Francesca Malvestiti, Chiara Piantoni, Elena Filippini, Elisa Fazzi and Giuseppe Borsani

    Citation: Molecular Cytogenetics 2021 14:6

    Content type: Case Report

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  14. 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 ...

    Authors: Xinyue Zhang, Fagui Yue, Qingyang Shi, Yuting Jiang, Jing He, Leilei Li and Ruizhi Liu

    Citation: Molecular Cytogenetics 2021 14:5

    Content type: Case Report

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  15. 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 s...

    Authors: Malgorzata Ilona Srebniak, Maarten F. C. M. Knapen, Marieke Joosten, Karin E. M. Diderich, Sander Galjaard and Diane Van Opstal

    Citation: Molecular Cytogenetics 2021 14:4

    Content type: Hypothesis

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  16. 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 po...

    Authors: Xinran Lu, Chaohong Wang, Yuxiu Sun, Junxiang Tang, Keting Tong and Jiansheng Zhu

    Citation: Molecular Cytogenetics 2021 14:1

    Content type: Research

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  17. 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 reporte...

    Authors: Max Winerdal, Eini Westenius, Michaela Granfors, Maria Pettersson and Erik Iwarsson

    Citation: Molecular Cytogenetics 2020 13:51

    Content type: Case Report

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  18. 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 human...

    Authors: Li Gao, Junyu Zhang, Xu Han, Wenjing Hu, Jinling Sun, Yuru Tan, Xinrong Zhao, Renyi Hua, Shan Wang, Yan Zhang, Yanlin Wang and Yi Wu

    Citation: Molecular Cytogenetics 2020 13:48

    Content type: Case Report

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  19. 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 featur...

    Authors: Emiy Yokoyama, Camilo E. Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina and Sara Frias

    Citation: Molecular Cytogenetics 2020 13:42

    Content type: Case Report

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  20. 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. Th...

    Authors: Connor P. Craig, Emily Calamaro, Chin-To Fong, Anwar M. Iqbal, Alexander R. Paciorkowski and Bin Zhang

    Citation: Molecular Cytogenetics 2020 13:40

    Content type: Case Report

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  21. 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 chrom...

    Authors: Chenyang Xu, Yanbao Xiang, Xueqin Xu, Lili Zhou, Huanzheng Li, Xueqin Dong and Shaohua Tang

    Citation: Molecular Cytogenetics 2020 13:38

    Content type: Research

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  22. 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...

    Authors: Sabine Dittner-Moormann, Madlen Reschke, Eva Biewald, Alma Kuechler, Barbara Klein, Beate Timmermann, Dietmar Lohmann, Petra Ketteler and Deniz Kanber

    Citation: Molecular Cytogenetics 2020 13:31

    Content type: Case Report

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  23. 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 ...

    Authors: Tingting Li, Haiquan Sang, Guoming Chu, Yuanyuan Zhang, Manlong Qi, Xiaoliang Liu, Wanting Cui and Yanyan Zhao

    Citation: Molecular Cytogenetics 2020 13:30

    Content type: Research

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  24. 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...

    Authors: Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen and Huaxiang Shen

    Citation: Molecular Cytogenetics 2020 13:28

    Content type: Research

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  25. 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 ...

    Authors: Xiangli Niu, Jiamin Long, Fangqiang Gong and Weihua Wang

    Citation: Molecular Cytogenetics 2020 13:27

    Content type: Case Report

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  26. 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 transloca...

    Authors: Jingbo Zhang, Bei Zhang, Tong Liu, Huihui Xie and Jingfang Zhai

    Citation: Molecular Cytogenetics 2020 13:26

    Content type: Case Report

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  27. 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 ...

    Authors: You-zhu Li, Rong-feng Wu, Xing-shen Zhu, Wen-sheng Liu, Yuan-yuan Ye, Zhong-xian Lu and Na Li

    Citation: Molecular Cytogenetics 2020 13:24

    Content type: Case Report

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  28. 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 wit...

    Authors: Stefania Maccarini, Annamaria Cipani, Valeria Bertini, Jelena Skripac, Alessandro Salvi, Giuseppe Borsani and Eleonora Marchina

    Citation: Molecular Cytogenetics 2020 13:23

    Content type: Case Report

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  29. 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 di...

    Authors: Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi and Marco Fichera

    Citation: Molecular Cytogenetics 2020 13:22

    Content type: Case Report

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  30. 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 ca...

    Authors: Yinghong Lu, Yi Liang, Sisi Ning, Guosheng Deng, Yuling Xie, Jujie Song, Na Zuo, Chunfeng Feng and Yunrong Qin

    Citation: Molecular Cytogenetics 2020 13:21

    Content type: Case Report

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  31. 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...

    Authors: Hui Xi, Ying Peng, Wanqin Xie, Jialun Pang, Na Ma, Shuting Yang, Jinping Peng and Hua Wang

    Citation: Molecular Cytogenetics 2020 13:20

    Content type: Case Report

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  32. 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 expl...

    Authors: Lili Zhou, Zhaoke Zheng, Lianpeng Wu, Chenyang Xu, Hao Wu, Xueqin Xu and Shaohua Tang

    Citation: Molecular Cytogenetics 2020 13:19

    Content type: Research

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  33. 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 retarda...

    Authors: 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 and Verónica Judith Picos-Cárdenas

    Citation: Molecular Cytogenetics 2020 13:17

    Content type: Case Report

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  34. 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 analys...

    Authors: Ramakrishnan Sasi, Jamie Senft, Michelle Spruill, Soham Rej and Peter L. Perrotta

    Citation: Molecular Cytogenetics 2020 13:14

    Content type: Case Report

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  35. Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which pose...

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

    Citation: Molecular Cytogenetics 2020 13:12

    Content type: Case Report

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  36. Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This stud...

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

    Citation: Molecular Cytogenetics 2020 13:11

    Content type: Research

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  37. The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromos...

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

    Citation: Molecular Cytogenetics 2020 13:9

    Content type: Research

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  38. To explore the clinical features of the patients with BCR-ABL1-negative chronic myeloproliferative neoplasms (MPNs) in our hospital and to reveal the unique features of BCR-ABL1-negative MPNs patients in our cent...

    Authors: Xiaolan Lin, Huifang Huang and Ping Chen

    Citation: Molecular Cytogenetics 2020 13:8

    Content type: Research

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  39. 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 ...

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

    Citation: Molecular Cytogenetics 2020 13:7

    Content type: Case Report

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  40. Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has ga...

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

    Citation: Molecular Cytogenetics 2020 13:5

    Content type: Research

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  41. Cordocentesis in our practice is most commonly indicated for rapid karyotyping in the second or third trimester and is regarded as the gold standard for foetal chromosomal aberration diagnosis in pregnancies a...

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

    Citation: Molecular Cytogenetics 2020 13:2

    Content type: Research

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  42. 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. ...

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

    Citation: Molecular Cytogenetics 2019 12:53

    Content type: Case Report

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  43. 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 ...

    Authors: Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov

    Citation: Molecular Cytogenetics 2019 12:52

    Content type: Hypothesis

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  44. 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 we...

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

    Citation: Molecular Cytogenetics 2019 12:51

    Content type: Case Report

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  45. 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 C...

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

    Citation: Molecular Cytogenetics 2019 12:50

    Content type: Research

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  46. 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 p...

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

    Citation: Molecular Cytogenetics 2019 12:49

    Content type: Case Report

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