Clinical genetics

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  1. Research

    MLPA analysis in a cohort of patients with autism

    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...

    Sara Peixoto, Joana B. Melo, José Ferrão, Luís M. Pires, Nuno Lavoura, Marta Pinto, Guiomar Oliveira and Isabel M. Carreira

    Molecular Cytogenetics 2017 10:2

    Published on: 4 February 2017

  2. Case Report

    A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

    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.

    Mara Giordano, Valentina Muratore, Deepak Babu, Cristina Meazza and Mauro Bozzola

    Molecular Cytogenetics 2016 9:89

    Published on: 3 December 2016

  3. Research

    Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

    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 (...

    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

    Molecular Cytogenetics 2016 9:69

    Published on: 7 September 2016

  4. Case Report

    Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

    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...

    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

    Molecular Cytogenetics 2016 9:66

    Published on: 24 August 2016

  5. Research

    Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams’ syndrome patients in Saudi Arabia

    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...

    I. R. Hussein, A. Magbooli, E. Huwait, A. Chaudhary, R. Bader, M. Gari, F. Ashgan, M. Alquaiti, A. Abuzenadah and M. AlQahtani

    Molecular Cytogenetics 2016 9:65

    Published on: 12 August 2016

  6. Letter to Editor

    Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge

    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...

    Jia-Chi Wang and Fatih Z. Boyar

    Molecular Cytogenetics 2016 9:64

    Published on: 10 August 2016

  7. Research

    Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

    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...

    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

    Molecular Cytogenetics 2016 9:61

    Published on: 8 August 2016

  8. Case Report

    14q32.3-qter trisomic segment: a case report and literature review

    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...

    Nicoletta Villa, Agnese Scatigno, Serena Redaelli, Donatella Conconi, Paola Cianci, Clotilde Farina, Chiara Fossati, Leda Dalprà, Silvia Maitz and Angelo Selicorni

    Molecular Cytogenetics 2016 9:60

    Published on: 5 August 2016

  9. Case Report

    Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

    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...

    H. Fryssira, E. Tsoutsou, S. Psoni, S. Amenta, T. Liehr, E. Anastasakis, Ch Skentou, A. Ntouflia, I. Papoulidis, E. Manolakos and N. Chaliasos

    Molecular Cytogenetics 2016 9:55

    Published on: 2 August 2016

  10. Case Report

    A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies

    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, ...

    Haiming Yuan, Zhe Meng, Liping Liu, Xiaoyan Deng, Xizi Hu and Liyang Liang

    Molecular Cytogenetics 2016 9:58

    Published on: 2 August 2016

  11. Research

    A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3

    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...

    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

    Molecular Cytogenetics 2016 9:57

    Published on: 30 July 2016

  12. Erratum

    Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism

    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

    Molecular Cytogenetics 2016 9:53

    Published on: 5 July 2016

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

  13. Case Report

    Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism

    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 ...

    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

    Molecular Cytogenetics 2016 9:45

    Published on: 15 June 2016

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

  14. Case Report

    Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

    Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short stature, feeding difficulties, microcephaly, dysmor...

    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

    Molecular Cytogenetics 2016 9:43

    Published on: 2 June 2016

  15. Letter to Editor

    A marker chromosome in post-transplant bone marrow

    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...

    Laura Morsberger, Kerry Powell and Yi Ning

    Molecular Cytogenetics 2016 9:42

    Published on: 1 June 2016

  16. Case Report

    A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

    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.

    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

    Molecular Cytogenetics 2016 9:41

    Published on: 31 May 2016

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