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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. Clonal chromosomal alterations (CCAs) reflect recurrent genetic changes derived from a single evolving clone, whereas nonclonal chromosomal alterations (NCCAs) comprise a single or nonrecurrent chromosomal abn...

    Authors: Osamu Imataki, Hiroyuki Kubo, Akihiro Takeuchi, Makiko Uemura and Norimitsu Kadowaki

    Citation: Molecular Cytogenetics 2019 12:46

    Content type: Research

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  2. Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal pr...

    Authors: Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu and Ruixue Wang

    Citation: Molecular Cytogenetics 2019 12:45

    Content type: Research

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  3. 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application o...

    Authors: Fagui Yue, Hongguo Zhang, Qi Xi, Yuting Jiang, Leilei Li, Ruizhi Liu and Ruixue Wang

    Citation: Molecular Cytogenetics 2019 12:44

    Content type: Case Report

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  4. Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastro...

    Authors: Mary A. Gudipati, Elizabeth Waters, Carol Greene, Nidhi Goel, Nicole L. Hoppman, Beth A. Pitel, Matthew R. Webley and Ying Zou

    Citation: Molecular Cytogenetics 2019 12:43

    Content type: Case Report

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  5. In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms. Therefore, conven...

    Authors: Jian Jiang Zhu, Hong Qi, Li Rong Cai, Xiao Hui Wen, Wen Zeng, Guo Dong Tang, Yao Luo, Ran Meng, Xue Qun Mao and Shao Qin Zhang

    Citation: Molecular Cytogenetics 2019 12:41

    Content type: Research

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  6. Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the presence of the extra isochromosome 12p. PKS is featured by the t...

    Authors: Ting Wang, Congmian Ren, Dan Chen, Jian Lu, Li Guo, Laiping Zheng, Yuan Liu and Hanbiao Chen

    Citation: Molecular Cytogenetics 2019 12:39

    Content type: Research

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  7. 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

    Content type: Research

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  8. 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

    Content type: Case Report

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  9. 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

    Content type: Research

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  10. 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

    Content type: Research

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  11. 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

    Content type: Case Report

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  12. 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

    Content type: Case Report

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  13. 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

    Content type: Research

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  14. 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

    Content type: Short report

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  15. 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

    Content type: Case Report

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  16. 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

    Content type: Case Report

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  17. 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

    Content type: Research

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  18. 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

    Content type: Research

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  19. 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

    Content type: Research

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  20. 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

    Content type: Research

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  21. 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

    Content type: Research

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  22. 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

    Content type: Research

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  23. 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

    Content type: Research

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  24. 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

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  25. 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

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  26. 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

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  27. 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

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  28. 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

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  29. 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

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  30. 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

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  31. 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

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  32. 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

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  33. 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

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  34. 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

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  35. 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

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  36. 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

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  37. 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

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  38. 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:

  39. 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

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  40. 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

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  41. 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

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  42. 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:

  43. 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

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  44. 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

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  45. 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

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  46. 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:

  47. 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

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