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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. 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 Published on:

  2. 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 Published on:

  3. 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 Published on:

  4. 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 Published on:

  5. 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 Published on:

  6. 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 Published on:

  7. 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 Published on:

  8. 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 Published on:

  9. 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 Published on:

  10. 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 Published on:

  11. 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:

  12. 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 Published on:

  13. 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 Published on:

  14. 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 Published on:

  15. 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 Published on:

    The Correction to this article has been published in Molecular Cytogenetics 2021 14:17

  16. 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 Published on:

  17. 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:

  18. 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 Published on: