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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. 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:

  2. 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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  3. 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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  4. 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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  5. 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

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  6. 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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  7. 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

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  8. 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

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  9. 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

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  10. 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

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  11. 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

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  12. 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

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  13. 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

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  14. 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

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  15. 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

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  16. 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

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  17. 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

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  18. 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

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  19. 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

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  20. 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

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  21. 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

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

  22. 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

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  23. 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

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  24. 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

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

  25. 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

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  26. 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

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  27. 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

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  28. 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

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  29. 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

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  30. Killian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tis...

    Authors: Elena Sukarova-Angelovska, Mirjana Kocova, Gordana Ilieva, Natalija Angelkova and Elena Kochova

    Citation: Molecular Cytogenetics 2016 9:38

    Content type: Case report

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  31. 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

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  32. Karyotyping is the gold standard cytogenetic method for detection of ring chromosomes. In this study we report the molecular characterization of a novel ring 6 (r6) chromosome in a six-year-old girl with sever...

    Authors: Rui Zhang, Xuan Chen, Peiling Li, Xiumin Lu, Yu Liu, Yan Li, Liang Zhang, Mengnan Xu and David S. Cram

    Citation: Molecular Cytogenetics 2016 9:33

    Content type: Research

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  33. Chromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we ...

    Authors: Hong Yan Liu, Jia Huang, Tao Li, Dong Wu, Hong Dan Wang, Yue Wang, Tao Wang, Liang Jie Guo, Qian Nan Guo, Fei Fei Huang, Rui Li Wang and Ying Tai Wang

    Citation: Molecular Cytogenetics 2016 9:31

    Content type: Research

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  34. GSTM1 gene deletion is one of the most known copy number polymorphisms in human genome. It is most likely caused by homologous recombination between the repeats flanking the gene. Howe...

    Authors: Andrey V. Khrunin, Irina N. Filippova, Aydar M. Aliev, Tat’yana V. Tupitsina, Petr A. Slominsky and Svetlana A. Limborska

    Citation: Molecular Cytogenetics 2016 9:30

    Content type: Research

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  35. The use of Microarray (array CGH) analysis has become a widely accepted front-line test replacing G banded chromosome studies for patients with an unexplained phenotype. We detail our findings of over 5300 cases.

    Authors: Adrian Mc Cormack, Karen Claxton, Fern Ashton, Philip Asquith, Edward Atack, Roberto Mazzaschi, Paula Moverley, Rachel O’Connor, Methat Qorri, Karen Sheath, Donald R. Love and Alice M. George

    Citation: Molecular Cytogenetics 2016 9:29

    Content type: Research

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  36. Loss of expression of imprinted genes in the 15q11.2-q13 region is known to cause either Prader-Willi syndrome (PWS) or Angelman syndrome (AS), depending on the parent of origin. In some patients (1 % in PWS a...

    Authors: Umut Aypar, Nicole L. Hoppman, Erik C. Thorland and D. Brian Dawson

    Citation: Molecular Cytogenetics 2016 9:26

    Content type: Research

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  37. Single embryo transfer (SET) has been utilized as a strategy to reduce the chance of multifetal gestations in in vitro fertilization (IVF) but lower pregnancy rate remains a concern. Recent studies showed that...

    Authors: Gwo-Chin Ma, Hsin-Fu Chen, Yu-Shih Yang, Wen-Hsiang Lin, Feng-Po Tsai, Chi-Fang Lin, Chi Chiu and Ming Chen

    Citation: Molecular Cytogenetics 2016 9:25

    Content type: Research

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  38. While chromosome 1 is the largest chromosome in the human genome, less than two dozen cases of interstitial microdeletions in the short arm have been documented. More than half of the 1p microdeletion cases we...

    Authors: Jonathan D. J. Labonne, Yiping Shen, Il-Keun Kong, Michael P. Diamond, Lawrence C. Layman and Hyung-Goo Kim

    Citation: Molecular Cytogenetics 2016 9:24

    Content type: Research

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  39. Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features – brachy(micro)cephaly, unusual shaped eyeb...

    Authors: Kinga Hadzsiev, Katalin Komlosi, Marta Czako, Balazs Duga, Renata Szalai, Andras Szabo, Etelka Postyeni, Titanilla Szabo, Gyorgy Kosztolanyi and Bela Melegh

    Citation: Molecular Cytogenetics 2016 9:22

    Content type: Case Report

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  40. Partial deletion of chromosome 21q is a very rare chromosomal abnormality associated with highly variable phenotypes, such as facial dysmorphic features, heart defects, seizures, psychomotor delay, and severe ...

    Authors: Edoardo Errichiello, Francesca Novara, Anna Cremante, Annapia Verri, Jessica Galli, Elisa Fazzi, Daniela Bellotti, Laura Losa, Mariangela Cisternino and Orsetta Zuffardi

    Citation: Molecular Cytogenetics 2016 9:21

    Content type: Research

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  41. Van der Woude syndrome (MIM: 119300, VWS) is a dominantly inherited and the most common orofacial clefting syndrome; it accounts for ~2 % of all cleft lip and palate cases. Intellectual disability (ID) is char...

    Authors: Martina Rincic, Milan Rados, Zeljka Krsnik, Kristina Gotovac, Fran Borovecki, Thomas Liehr and Lukrecija Brecevic

    Citation: Molecular Cytogenetics 2016 9:19

    Content type: Case Report

    Published on:

  42. Ring chromosome 18 [r(18)] syndrome represents a relatively rare condition with a complex clinical picture including multiple congenital dysmorphia and varying degrees of mental retardation. The condition is c...

    Authors: Anna Zlotina, Tatiana Nikulina, Natalia Yany, Olga Moiseeva, Tatiana Pervunina, Eugeny Grekhov and Anna Kostareva

    Citation: Molecular Cytogenetics 2016 9:18

    Content type: Case Report

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  43. Idiopathic short stature (ISS) refers to short stature with no evident etiologies. The custom genome-wide microarray specifically designed to cover height-related genes may be helpful to detect copy number var...

    Authors: Guorui Hu, Yanjie Fan, Lili Wang, Ru-en Yao, Xiaodong Huang, Yiping Shen, Yongguo Yu and Xuefan Gu

    Citation: Molecular Cytogenetics 2016 9:16

    Content type: Research

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  44. IInterstitial 21q deletions can cause a wide spectrum of symptoms depending on the size and the location of the deletion. It has previously been suggested that the long arm of chromosome 21 can be divided into...

    Authors: Cathrine Jespersgaard, Ida N. Damgaard, Nanna Cornelius, Iben Bache, Niels Knabe, Maria J. Miranda and Zeynep Tümer

    Citation: Molecular Cytogenetics 2016 9:11

    Content type: Case Report

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  45. Non-progressive cerebellar ataxia with mental retardation (CANPMR, OMIM 614756) and chromosome 1p32-p31 deletion syndrome (OMIM 613735) are two very rare inherited disorders, which are caused by mono-allelic d...

    Authors: Emanuele G. Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink, Hendrik Langen and Joachim Riedel

    Citation: Molecular Cytogenetics 2016 9:10

    Content type: Research

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  46. Men with 47, XYY syndrome are presented with varying physical attributes and degrees of infertility. Little information has been documented regarding the meiotic progression in patients with extra Y chromosome...

    Authors: Caiyun Wu, Liu Wang, Furhan Iqbal, Xiaohua Jiang, Ihtisham Bukhari, Tonghang Guo, Gengxin Yin, Howard J. Cooke, Zhenyi Cao, Hong Jiang and Qinghua Shi

    Citation: Molecular Cytogenetics 2016 9:9

    Content type: Research

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  47. Mosaicism for chromosomal structural rearrangements (Rea) is rare and the timing and mechanisms of mosaic Rea formation, maintenance, and clinical manifestation are poorly understood. To date, there are no pub...

    Authors: Natalia V. Kovaleva and Philip D. Cotter

    Citation: Molecular Cytogenetics 2016 9:8

    Content type: Review

    Published on:

  48. About 10 –15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (C...

    Authors: Jiandong Shen, Wei Wu, Chao Gao, Humphrey Ochin, Dianyun Qu, Jiazi Xie, Li Gao, Yadong Zhou, Yugui Cui and Jiayin Liu

    Citation: Molecular Cytogenetics 2016 9:7

    Content type: Research

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