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Clinical genetics

Section information

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. Content type: Research

    Nearly 9.89% of chromosome 16 consists of segmental duplications, which makes it prone to non-homologous recombination. The present study aimed to investigate the incidence and perinatal characteristics of sub...

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

    Citation: Molecular Cytogenetics 2019 12:36

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  2. Content type: Case Report

    The 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that yield varied and wide-ranging phenotypes. Nearly 1% of male newborns have...

    Authors: Liliana Fernández-Hernández, María José Navarro-Cobos, Miguel Angel Alcántara-Ortigoza, Sandra Elena Ramos-Ángeles, Bertha Molina-Álvarez, Sinhué Díaz-Cuéllar, Bárbara Asch-Daich and Ariadna González-del Angel

    Citation: Molecular Cytogenetics 2019 12:35

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  3. Content type: Research

    Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies using cell-free DNA (cfDNA) has been widely adopted in clinical practice due to its improved accuracy. A number of NIPT tests have been developed and...

    Authors: Elena Kypri, Marios Ioannides, Evi Touvana, Ioanna Neophytou, Petros Mina, Voula Velissariou, Spiros Vittas, Alfredo Santana, Filippos Alexidis, Kyriakos Tsangaras, Achilleas Achilleos, Philippos Patsalis and George Koumbaris

    Citation: Molecular Cytogenetics 2019 12:34

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  4. Content type: Research

    This study aimed to estimate the associations of copy number variants (CNVs) with fetal kidney ultrasound anomalies. A total of 331 fetuses with kidney ultrasound anomalies who underwent prenatal chromosomal m...

    Authors: Shaobin Lin, Shanshan Shi, Linhuan Huang, Ting Lei, Danlei Cai, Wenlong Hu, Yi Zhou and Yanmin Luo

    Citation: Molecular Cytogenetics 2019 12:31

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  5. Content type: Case Report

    Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal ...

    Authors: Olga Tšuiko, Tuuli Dmitrijeva, Katrin Kask, Pille Tammur, Neeme Tõnisson, Andres Salumets and Tatjana Jatsenko

    Citation: Molecular Cytogenetics 2019 12:28

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  6. Content type: Case Report

    Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication...

    Authors: Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani and Antonio Novelli

    Citation: Molecular Cytogenetics 2019 12:26

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  7. Content type: Research

    Etiology of developmental delay/intellectual disability is very heterogeneous. In recent years, genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test.

    Authors: Şule Altıner and Nüket Yürür Kutlay

    Citation: Molecular Cytogenetics 2019 12:23

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  8. Content type: Short report

    15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deleti...

    Authors: Maysoon Alsagob, Mustafa A. Salih, Muddathir H. A. Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M. Wakil, Ali AlOdaib, Dilek Colak and Namik Kaya

    Citation: Molecular Cytogenetics 2019 12:21

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  9. Content type: Case Report

    There are only ten reported cases of interstitial deletions involving cytogenetic bands 10q21.3q22.2 in the literature. Of the ten patients with overlapping 10q21.3q22.2 interstitial deletions, only nine have ...

    Authors: John C. Herriges, Sarah L. Dugan and Allen N. Lamb

    Citation: Molecular Cytogenetics 2019 12:20

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  10. Content type: Case Report

    Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including.

    Authors: Xiaofei Cheng, Qifang Yang, Jun Liu, Juan Ye, Huiying Xiao, Gaimei Zhang, Yuanyuan Pan, Xia Li, Ruifeng Hao and Yinfeng Li

    Citation: Molecular Cytogenetics 2019 12:16

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  11. Content type: Research

    This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and...

    Authors: Huili Xue, Hailong Huang, Yan Wang, Gang An, Min Zhang, Liangpu Xu and Yuan Lin

    Citation: Molecular Cytogenetics 2019 12:13

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  12. Content type: Research

    Regions of homozygosity (ROH) are continuous homozygous segments commonly seen in the human genome. The integration of single nucleotide polymorphism (SNP) probes into current array comparative genomic hybridi...

    Authors: Jiadi Wen, Kathleen Comerford, Zhiyong Xu, Weiqing Wu, Katherine Amato, Brittany Grommisch, Autumn DiAdamo, Fang Xu, Hongyan Chai and Peining Li

    Citation: Molecular Cytogenetics 2019 12:12

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  13. Content type: Research

    To analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether an...

    Authors: Jie Wang, Dong Li, Zhipeng Xu, Zhenyu Diao, Jianjun Zhou, Fei Lin and Ningyuan Zhang

    Citation: Molecular Cytogenetics 2019 12:11

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  14. Content type: Research

    Conventional cytogenetic analysis using G-band karyotyping has been the method of choice for prenatal diagnosis, accurately detecting chromosomal abnormalities larger than 5 Mb. However, the method is ineffici...

    Authors: Dongsook Lee, Sohyun Na, Surim Park, Sanghee Go, Jinyoung Ma, Soonha Yang, Kichul Kim, Seunggwan Lee and Doyeong Hwang

    Citation: Molecular Cytogenetics 2019 12:10

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  15. Content type: Research

    Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of interna...

    Authors: Zhiwen Shi, Shuxia Chen, Xiao Han, Rui Peng, Jin Luo, Luming Yang, Yufang Zheng and Hongyan Wang

    Citation: Molecular Cytogenetics 2019 12:8

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  16. Content type: Research

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 r...

    Authors: Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao and Aihua Yin

    Citation: Molecular Cytogenetics 2019 12:7

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  17. Content type: Research

    Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The ai...

    Authors: Wafa Slimani, Hela Ben Khelifa, Sarra Dimassi, Fatma-Zohra Chioukh, Afef Jelloul, Molka Kammoun, Hanene Hannachi, Sarra Bouslah, Nesrine Jammali, Damien Sanlaville, Ali Saad and Soumaya Mougou-Zerelli

    Citation: Molecular Cytogenetics 2019 12:5

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  18. Content type: Hypothesis

    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

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  19. Content type: Case Report

    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

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  20. Content type: Case Report

    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

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  21. Content type: Case Report

    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

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  22. Content type: Research

    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

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  23. Content type: Case Report

    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

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  24. Content type: Case Report

    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

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  25. Content type: Research

    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

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  26. Content type: Case Report

    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

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  27. Content type: Case Report

    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

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  28. Content type: Research

    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

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  29. Content type: Review

    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

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  30. Content type: Research

    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

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  31. Content type: Research

    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

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  32. Content type: Research

    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

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  33. Content type: Research

    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

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  34. Content type: Case Report

    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

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  35. Content type: Case Report

    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

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  36. Content type: Case Report

    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

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  37. Content type: Case Report

    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

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  38. Content type: Case Report

    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

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  39. Content type: Case Report

    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

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  40. Content type: Case Report

    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

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  41. Content type: Research

    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

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  42. Content type: Review

    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

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  43. Content type: Research

    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

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  44. Content type: Case Report

    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

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  45. Content type: Case Report

    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

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  46. Content type: Research

    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

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  47. Content type: Case Report

    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

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