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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. In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby...

    Authors: Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov
    Citation: Molecular Cytogenetics 2019 12:4
    Content type: Hypothesis Published on:

  2. Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosin...

    Authors: Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li and Aihua Yin
    Citation: Molecular Cytogenetics 2019 12:1
    Content type: Case Report Published on:

  3. The aim of Preimplantation Genetic Diagnosis (PGD) on embryos produced in vitro is to identify the embryos without genetic or chromosomal defect from those embryos that will develop the genetic disease or are chr...

    Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Carmelita Alecci and Antonino Guglielmino
    Citation: Molecular Cytogenetics 2018 11:63
    Content type: Case Report Published on:

  4. Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without ...

    Authors: Franziska Schnabel, Mateja Smogavec, Rudolf Funke, Silke Pauli, Peter Burfeind and Iris Bartels
    Citation: Molecular Cytogenetics 2018 11:62
    Content type: Case Report Published on:

  6. This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior pre...

    Authors: Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu and Hua Cao
    Citation: Molecular Cytogenetics 2018 11:58
    Content type: Research Published on:

  7. Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Dup...

    Authors: A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid and M. S. Zaki
    Citation: Molecular Cytogenetics 2018 11:57
    Content type: Case Report Published on:

  8. Deletions involving the long arm of chromosome 18 have been associated with a highly variable phenotypic spectrum that is related to the extent of the deleted region. Duplications in chromosomal region 4p16.3 ...

    Authors: Chunjing Wang, Huanhuan Ren, Huaifu Dong, Meng Liang, Qi Wu and Yaping Liao
    Citation: Molecular Cytogenetics 2018 11:55
    Content type: Case Report Published on:

  9. Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeleti...

    Authors: Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan and Murat Erdogan
    Citation: Molecular Cytogenetics 2018 11:54
    Content type: Research Published on:

  10. The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retard...

    Authors: Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo and Palma Finelli
    Citation: Molecular Cytogenetics 2018 11:53
    Content type: Case Report Published on:

  11. Complex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial inheritance of complex chromosomal structural al...

    Authors: Peter J. B. Sabatini, Resham Ejaz, Dimitri J. Stavropoulos, Roberto Mendoza-Londono and Ann M. Joseph-George
    Citation: Molecular Cytogenetics 2018 11:50
    Content type: Case Report Published on:

  12. Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not...

    Authors: Yuan Tian, Linlin Zhang, Weifang Tian, Jinshuang Gao, Liting Jia and Shihong Cui
    Citation: Molecular Cytogenetics 2018 11:49
    Content type: Research Published on:

  13. Recombinant chromosome 4 syndrome (rec 4 syndrome) is a rare genetic disorder, predominately resulting from a parental pericentric inversion of chromosome 4. To date, a total of 18 cases of rec (4) syndrome we...

    Authors: Yi Wu, Yanlin Wang, Shi Wu Wen, Xinrong Zhao, Wenjing Hu, Chunmin Liu, Li Gao, Yan Zhang, Shan Wang, Xingyu Yang, Biwei He and Weiwei Cheng
    Citation: Molecular Cytogenetics 2018 11:48
    Content type: Review Published on:

  14. Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but the...

    Authors: Jiexia Yang, Yiming Qi, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, O. Y. Haoxin, Yixia Wang, Huajie Huang and Aihua Yin
    Citation: Molecular Cytogenetics 2018 11:47
    Content type: Research Published on:

  16. Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically...

    Authors: Birsen Karaman, Hülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu and Seher Basaran
    Citation: Molecular Cytogenetics 2018 11:45
    Content type: Research Published on:

  17. Chromosomal abnormality is one of the major cause of spontaneous abortion. Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and som...

    Authors: Xiangyu Zhu, Jie Li, Yujie Zhu, Wanjun Wang, Xing Wu, Ying Yang, Leilei Gu, Yuanyuan Gu and Yali Hu
    Citation: Molecular Cytogenetics 2018 11:44
    Content type: Research Published on:

  18. The clinical features of Down syndrome vary among individuals, with those most common being congenital heart disease, intellectual disability, developmental abnormity and dysmorphic features. Complex combinati...

    Authors: Wenfu Li, Xianfu Wang and Shibo Li
    Citation: Molecular Cytogenetics 2018 11:42
    Content type: Research Published on:

  19. Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes.

    Authors: Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin and Yao-Shan Fan
    Citation: Molecular Cytogenetics 2018 11:43
    Content type: Case Report Published on:

  20. Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features wer...

    Authors: Luca Lovrecic, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor and Borut Peterlin
    Citation: Molecular Cytogenetics 2018 11:39
    Content type: Case Report Published on:

  21. Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing att...

    Authors: Jun-Kun Chen, Ping Liu, Li-Qin Hu, Qing Xie, Quan-Fei Huang and Hai-Liang Liu
    Citation: Molecular Cytogenetics 2018 11:37
    Content type: Case Report Published on:

  22. Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.

    Authors: Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup and Carolina Sismani
    Citation: Molecular Cytogenetics 2018 11:34
    Content type: Case Report Published on:

  23. In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400–500-band karyotyping i...

    Authors: Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch and Sara Frías
    Citation: Molecular Cytogenetics 2018 11:30
    Content type: Case Report Published on:

  24. With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific...

    Authors: Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek and Marketa Vlckova
    Citation: Molecular Cytogenetics 2018 11:29
    Content type: Case Report Published on:

  25. A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,...

    Authors: Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap and Nanis S. Marzuki
    Citation: Molecular Cytogenetics 2018 11:28
    Content type: Case Report Published on:

  26. Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation.

    Authors: Anna A. Kashevarova, Elena O. Belyaeva, Aleksandr M. Nikonov, Olga V. Plotnikova, Nikolay A. Skryabin, Tatyana V. Nikitina, Stanislav A. Vasilyev, Yulia S. Yakovleva, Nadezda P. Babushkina, Ekaterina N. Tolmacheva, Mariya E. Lopatkina, Renata R. Savchenko, Lyudmila P. Nazarenko and Igor N. Lebedev
    Citation: Molecular Cytogenetics 2018 11:26
    Content type: Research Published on:

  27. Mosaicism for chromosome rearrangements is common in preimplantation diagnoses, yet is rare in prenatal diagnoses as well as in other groups of patients referred to cytogenetic testing. Consequently, there is ...

    Authors: Natalia V. Kovaleva and Philip D. Cotter
    Citation: Molecular Cytogenetics 2017 10:45
    Content type: Review Published on:

  28. Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an importan...

    Authors: Sara Peixoto, Joana B. Melo, José Ferrão, Luís M. Pires, Nuno Lavoura, Marta Pinto, Guiomar Oliveira and Isabel M. Carreira
    Citation: Molecular Cytogenetics 2017 10:2
    Content type: Research Published on:

  29. Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5–431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy.

    Authors: Mara Giordano, Valentina Muratore, Deepak Babu, Cristina Meazza and Mauro Bozzola
    Citation: Molecular Cytogenetics 2016 9:89
    Content type: Case Report Published on:

  30. Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. The minimal region of overlap c...

    Authors: Arianna Tucci, Claudia Ciaccio, Giulietta Scuvera, Susanna Esposito and Donatella Milani
    Citation: Molecular Cytogenetics 2016 9:80
    Content type: Case Report Published on:

  31. Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (...

    Authors: Malgorzata I. Srebniak, Merel C. de Wit, Karin E. M. Diderich, Lutgarde C. P. Govaerts, Marieke Joosten, Maarten F. C. M. Knapen, Marnix J. Bos, Gerda A. G. Looye-Bruinsma, Mieke Koningen, Attie T. J. I. Go, Robert Jan H. Galjaard and Diane Van Opstal
    Citation: Molecular Cytogenetics 2016 9:69
    Content type: Research Published on:

  32. Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases hav...

    Authors: Shujie Zhang, Haisong Qin, Jin Wang, Luping OuYang, Shiyu Luo, Chunyun Fu, Xin Fan, Jiasun Su, Rongyu Chen, Bobo Xie, Xuyun Hu, Shaoke Chen and Yiping Shen
    Citation: Molecular Cytogenetics 2016 9:66
    Content type: Case Report Published on:

  33. Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneup...

    Authors: I. R. Hussein, A. Magbooli, E. Huwait, A. Chaudhary, R. Bader, M. Gari, F. Ashgan, M. Alquaiti, A. Abuzenadah and M. AlQahtani
    Citation: Molecular Cytogenetics 2016 9:65
    Content type: Research Published on:

  34. Chromosomal microarray analysis (CMA) has been recommended and practiced routinely in the large reference laboratories of U.S.A. as the first-tier test for the postnatal evaluation of individuals with intellec...

    Authors: Jia-Chi Wang and Fatih Z. Boyar
    Citation: Molecular Cytogenetics 2016 9:64
    Content type: Letter to Editor Published on:

  35. Marker chromosomes are small supernumerary chromosomes that cannot be unambiguously identified by chromosome banding techniques alone. However, the precise characterization of marker chromosomes is important f...

    Authors: Woori Jang, Hyojin Chae, Jiyeon Kim, Jung-Ok Son, Seok Chan Kim, Bo Kyung Koo, Myungshin Kim, Yonggoo Kim, In Yang Park and In Kyung Sung
    Citation: Molecular Cytogenetics 2016 9:61
    Content type: Research Published on:

  36. Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental m...

    Authors: Nicoletta Villa, Agnese Scatigno, Serena Redaelli, Donatella Conconi, Paola Cianci, Clotilde Farina, Chiara Fossati, Leda Dalprà, Silvia Maitz and Angelo Selicorni
    Citation: Molecular Cytogenetics 2016 9:60
    Content type: Case Report Published on:

  37. Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, ...

    Authors: Haiming Yuan, Zhe Meng, Liping Liu, Xiaoyan Deng, Xizi Hu and Liyang Liang
    Citation: Molecular Cytogenetics 2016 9:58
    Content type: Case Report Published on:

  38. FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinica...

    Authors: H. Fryssira, E. Tsoutsou, S. Psoni, S. Amenta, T. Liehr, E. Anastasakis, Ch Skentou, A. Ntouflia, I. Papoulidis, E. Manolakos and N. Chaliasos
    Citation: Molecular Cytogenetics 2016 9:55
    Content type: Case Report Published on:

  39. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, or the congenital absence of uterus and vagina, is the most severe anomaly of the female reproductive tract. It affects 1 in 5,000 females, and is the second mos...

    Authors: Lacey S. Williams, Hyung-Goo Kim, Vera M. Kalscheuer, J. Matthew Tuck, Lynn P. Chorich, Megan E. Sullivan, Allison Falkenstrom, Richard H. Reindollar and Lawrence C. Layman
    Citation: Molecular Cytogenetics 2016 9:57
    Content type: Research Published on:

  40. Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur e...

    Authors: Jing Liu, Hao Hu, Na Ma, Zhengjun Jia, Yuchun Zhou, Jiancheng Hu and Hua Wang
    Citation: Molecular Cytogenetics 2016 9:54
    Content type: Case Report Published on:

  41. Authors: Juliana Dourado Grzesiuk, Ciro Silveira Pereira, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Flávia Gaona Oliveira-Gennaro, Filipe Brum Machado, Enrique Medina-Acosta, Ester Silveira Ramos, Maisa Yoshimoto and Lucia Martelli
    Citation: Molecular Cytogenetics 2016 9:53
    Content type: Erratum Published on:

    The original article was published in Molecular Cytogenetics 2016 9:45

  42. The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of th...

    Authors: Chunyang Li, Chunxue Liu, Bingrui Zhou, Chunchun Hu and Xiu Xu
    Citation: Molecular Cytogenetics 2016 9:51
    Content type: Case Report Published on:

  43. Robertsonian translocations occur in approximately one in every 1000 newborns. Although most Robertsonian translocation carriers are healthy and have a normal lifespan, they are at increased risk of spontaneou...

    Authors: Jieping Song, Xi li, Lei Sun, Shuqin Xu, Nian Liu, Yanyi Yao, Zhi Liu, Weipeng Wang, Han Rong and Bo Wang
    Citation: Molecular Cytogenetics 2016 9:48
    Content type: Case Report Published on:

  44. Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes ...

    Authors: Juliana Dourado Grzesiuk, Ciro Silveira Pereira, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Flávia Gaona Oliveira-Gennaro, Filipe Brum Machado, Enrique Medina-Acosta, Ester Silveira Ramos, Maisa Yoshimoto and Lucia Martelli
    Citation: Molecular Cytogenetics 2016 9:45
    Content type: Case Report Published on:

    The Erratum to this article has been published in Molecular Cytogenetics 2016 9:53

  45. Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short stature, feeding difficulties, microcephaly, dysmor...

    Authors: Malgorzata I. Srebniak, Laura J. C. M. van Zutven, Florence Petit, Sonia Bouquillon, Ilse P. J. van Heel, Maarten F. C. M. Knapen, Jerome M. J. Cornette, Andreas Kremer, Diane Van Opstal and Karin E. M. Diderich
    Citation: Molecular Cytogenetics 2016 9:43
    Content type: Case Report Published on:

  46. Detection of small supernumerary marker chromosomes in karyotype analysis represents a diagnostic challenge. While such markers are usually detected during cytogenetic studies of constitutional chromosome abno...

    Authors: Laura Morsberger, Kerry Powell and Yi Ning
    Citation: Molecular Cytogenetics 2016 9:42
    Content type: Letter to Editor Published on:

  47. Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported.

    Authors: Bobo Xie, Xin Fan, Yaqin Lei, Rongyu Chen, Jin Wang, Chunyun Fu, Shang Yi, Jingsi Luo, Shujie Zhang, Qi Yang, Shaoke Chen and Yiping Shen
    Citation: Molecular Cytogenetics 2016 9:41
    Content type: Case Report Published on:

  48. Structural rearrangements of chromosome 19p13.3 are a rare condition, and their phenotypic consequences remain not well defined, because of the variability of clinical manifestations. Increasing knowledge of n...

    Authors: Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Raffaella Stallone, Teresa Palladino, Leopoldo Zelante and Massimo Carella
    Citation: Molecular Cytogenetics 2016 9:40
    Content type: Case Report Published on:

  49. Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving 11q terminal deletion. Interstitial deletions at distal 11q are rare and their contributions to the clinical phenotype of JBS are unknown.

    Authors: Jiasun Su, Rongyu Chen, Jingsi Luo, Xin Fan, Chunyun Fu, Jin Wang, Sheng He, Xuyun Hu, ShuJie Zhang, Shang Yi, Shaoke Chen and Yiping Shen
    Citation: Molecular Cytogenetics 2016 9:39
    Content type: Case report Published on:

  50. Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC...

    Authors: Yu-an Hu, Yingxia Cui, Xiaobo Fan, Qiuyue WU, Weiwei Li and Weiping Wang
    Citation: Molecular Cytogenetics 2016 9:37
    Content type: Case Report Published on:

Molecular Cytogenetics

ISSN: 1755-8166