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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. Analyses of miscarriage products indicate that the majority of aneuploidies in early developing embryos derive from errors occurring during maternal meiosis and the paternal contribution is less than 10%. Our ...

    Authors: N. Samara, S. Peleg, T. Frumkin, V. Gold, H. Amir, Einat Haikin Herzberger, A. Reches, Y. Kalma, Dalit Ben Yosef, F. Azem and M. Malcov
    Citation: Molecular Cytogenetics 2022 15:11
    Content type: Research Published on:

  2. Unbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells. Mosaic unbalanced translocations are extremely rare with a highly variable...

    Authors: Xiaolin Hu, Elizabeth K. Baker, Jodie Johnson, Stephanie Balow, Loren D. M. Pena, Laura K. Conlin, Qiaoning Guan and Teresa A. Smolarek
    Citation: Molecular Cytogenetics 2022 15:10
    Content type: Case Report Published on:

  3. Overlapping microdeletions of chromosome 3q26-3q28 have been reported in eight individuals. The common phenotype observed in these individuals include intrauterine growth restriction, short stature, microcepha...

    Authors: Subit Barua, Elaine M. Pereira, Vaidehi Jobanputra, Kwame Anyane-Yeboa, Brynn Levy and Jun Liao
    Citation: Molecular Cytogenetics 2022 15:7
    Content type: Case Report Published on:

  4. A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently v...

    Authors: Shengfang Qin, Xueyan Wang, Jin Wang, Zhuo Zhang, Ximin Chen, Yan Yin, Mengling Ye and Jesse Li-Ling
    Citation: Molecular Cytogenetics 2022 15:3
    Content type: Research Published on:

  6. MEIS2 (Meis homeobox 2) encodes a homeobox protein in the three amino acid loop extension (TALE) family of highly conserved homeodomain-containing transcription regulators important for development. MEIS2 deletio...

    Authors: Bin Zhang, Michel Liu, Chin-To Fong and M. Anwar Iqbal
    Citation: Molecular Cytogenetics 2021 14:58
    Content type: Case Report Published on:

  7. Chromosome 15q24 microdeletion is a rare genetic disorder characterized by development delay, facial dysmorphism, congenital malformations, and occasional autism spectrum disorder (ASD). In this study, we iden...

    Authors: Yuanyuan Zhang, Xiaoliang Liu, Haiming Gao, Wanting Cui, Bijun Zhang and Yanyan Zhao
    Citation: Molecular Cytogenetics 2021 14:57
    Content type: Research Published on:

  8. Pregnancy loss is one of the most common complications during pregnancy. Clinical consultation based on etiology analysis are critical for reducing anxiety and distress. This study aimed to perform a comprehen...

    Authors: Xiaoqing Wu, Linjuan Su, Xiaorui Xie, Deqin He, Xuemei Chen, Meiying Wang, Linshuo Wang, Lin Zheng and Liangpu Xu
    Citation: Molecular Cytogenetics 2021 14:56
    Content type: Research Published on:

  9. De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported.

    Authors: Shaoqin Zhang, Jianjiang Zhu, Hong Qi, Limei Xu, Lirong Cai and Ran Meng
    Citation: Molecular Cytogenetics 2021 14:55
    Content type: Research Published on:

  11. Isolated Congenital Asplenia (ICA, OMIM #271400) is a rare, life-threatening abnormality causing immunodeficiency, which is characterized by the absence of a spleen. Diagnosis should be completed in early chil...

    Authors: Aleksandra Oszer, Katarzyna Bąbol-Pokora, Sylwia Kołtan, Agata Pastorczak and Wojciech Młynarski
    Citation: Molecular Cytogenetics 2021 14:51
    Content type: Case Report Published on:

  12. Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition, w...

    Authors: Xiufen Bu, Xu Li, Shihao Zhou, Liangcheng Shi, Xuanyu Jiang, Can Peng, Hongyu Li and Jun He
    Citation: Molecular Cytogenetics 2021 14:50
    Content type: Case Report Published on:

  13. Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, d...

    Authors: Caroline Miller, Benjamin G. Gertsen, Audrey L. Schroeder, Chin-To Fong, M. Anwar Iqbal and Bin Zhang
    Citation: Molecular Cytogenetics 2021 14:48
    Content type: Case Report Published on:

  14. There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra...

    Authors: Natalya A. Lemskaya, Svetlana A. Romanenko, Mariia A. Rezakova, Elena A. Filimonova, Dmitry Yu. Prokopov, Alexander A. Dolskiy, Polina L. Perelman, Yulia V. Maksimova, Asia R. Shorina and Dmitry V. Yudkin
    Citation: Molecular Cytogenetics 2021 14:47
    Content type: Case Report Published on:

  15. There is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to cla...

    Authors: Jianlong Zhuang, Na Zhang, Wanyu Fu, Jianfeng Yao, Yanqing Li, Shuhong Zeng, Yuanbai Wang, Yingjun Xie and Yuying Jiang
    Citation: Molecular Cytogenetics 2021 14:46
    Content type: Research Published on:

  17. 4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, develop...

    Authors: Juan Pablo Meza-Espinoza, José Alfredo Contreras-Gutiérrez, Eliakym Arámbula-Meraz, Juan Ramón González-García, Ma. Guadalupe Domínguez-Quezada, Noemí García-Magallanes, Jesús Madueña-Molina, Julio Benítez-Pascual, Miriam Partida-Pérez and Verónica Judith Picos-Cárdenas
    Citation: Molecular Cytogenetics 2021 14:43
    Content type: Case Report Published on:

  18. Central diabetes insipidus (CDI) is a rare complication of myelodysplastic syndrome (MDS). Although the cytogenetic features of patients with MDS and CDI are not clear, CDI in patients with acute myeloid leuke...

    Authors: Yunfan Yang, Ting Lin, Tian Dong and Yu Wu
    Citation: Molecular Cytogenetics 2021 14:42
    Content type: Case Report Published on:

  19. Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified geno...

    Authors: Zhanna G. Markova, Marina E. Minzhenkova, Lyudmila A. Bessonova and Nadezda V. Shilova
    Citation: Molecular Cytogenetics 2021 14:41
    Content type: Case Report Published on:

  20. The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which ma...

    Authors: Nikolaos Vrachnis, Ioannis Papoulidis, Dionysios Vrachnis, Elisavet Siomou, Nikolaos Antonakopoulos, Stavroula Oikonomou, Dimitrios Zygouris, Nikolaos Loukas, Zoi Iliodromiti, Efterpi Pavlidou, Loretta Thomaidis and Emmanouil Manolakos
    Citation: Molecular Cytogenetics 2021 14:39
    Content type: Case Report Published on:

  21. Whole chromosome uniparental disomy (UPD) has been well documented with mechanisms largely understood. However, the etiology of segmental limited UPD (segUPD) is not as clear. In a 10-year period of confirming...

    Authors: Peter R. Papenhausen, Carla A. Kelly, Samuel Harris, Samantha Caldwell, Stuart Schwartz and Andrea Penton
    Citation: Molecular Cytogenetics 2021 14:38
    Content type: Research Published on:

  22. Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part of a chromosome may be indicative of uniparental disomy (UPD) and may require additional testing when such chromosomes or...

    Authors: Veronica Ortega, Raymond J. Louie, Melanie A. Jones, Alka Chaubey, Barbara R. DuPont, Allison Britt, Joseph Ray, Scott D. McLean, Rebecca O. Littlejohn and Gopalrao Velagaleti
    Citation: Molecular Cytogenetics 2021 14:37
    Content type: Case Report Published on:

  23. The terminal 10q26 deletion syndrome is a clinically heterogeneous disorder without identified genotype–phenotype correlations. We reported a case of congenital asymmetric crying facies (ACF) syndrome with 10q...

    Authors: Qinghong Li, Chunmei Sun, Jinzhen Guo, Wen Zhai and Liping Zhang
    Citation: Molecular Cytogenetics 2021 14:36
    Content type: Research Published on:

  24. Chromosomal copy number variants (CNVs) are an important cause of congenital malformations and mental retardation. This study reported a large Chinese pedigree (4-generation, 76 members) with mental retardatio...

    Authors: Dongmei Hao, Yajuan Li, Lisha Chen, Xiliang Wang, Mengxing Wang and Yuexin Yu
    Citation: Molecular Cytogenetics 2021 14:35
    Content type: Case Report Published on:

  25. To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies.

    Authors: Yuan Cheng, Xinran Lu, Junxiang Tang, Jingran Li, Yuxiu Sun, Chaohong Wang and Jiansheng Zhu
    Citation: Molecular Cytogenetics 2021 14:32
    Content type: Research Published on:

  27. 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 Published on:

  28. 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 Published on:

  29. 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 Published on:

  30. 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 Published on:

  31. 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 Published on:

  32. 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 Published on:

  33. 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 Published on:

  34. 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 Published on:

  35. 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 Published on:

  36. 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 Published on:

  37. 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 Published on:

  38. 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 Published on:

  39. 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 Published on:

  40. 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 Published on:

  41. 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 Published on:

  43. 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 Published on:

  44. 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 Published on:

  45. 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 Published on:

  46. 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 Published on:

  47. 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 Published on:

  49. 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 Published on:

  50. 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 Published on:

Molecular Cytogenetics

ISSN: 1755-8166