Skip to content

Advertisement

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.

Page 1 of 3
  1. 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

    Published on:

  2. 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

    Published on:

  3. 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

    Published on:

  4. 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

    Published on:

  5. 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

    Published on:

  6. 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

    Published on:

  7. 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

    Published on:

  8. 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

    Published on:

  9. 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

    Published on:

  10. 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

    Published on:

  11. Content type: Research

    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

    Published on:

  12. Content type: Letter to Editor

    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

    Published on:

  13. Content type: Research

    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

    Published on:

  14. Content type: Case Report

    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

    Published on:

  15. Content type: Case Report

    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

    Published on:

  16. Content type: Case Report

    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

    Published on:

  17. Content type: Research

    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

    Published on:

  18. Content type: Case Report

    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

    Published on:

  19. Content type: Erratum

    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

    Published on:

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

  20. Content type: Case Report

    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

    Published on:

Page 1 of 3

Advertisement