Literature DB >> 23695988

Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.

Kristina Orendi1, Sabine Uhrig, Monika Mach, Petra Tschepper, Michael R Speicher.   

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Year:  2013        PMID： 23695988     DOI： 10.1002/ajmg.a.35986

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications.

Authors:  Thiago Corrêa; Cíntia B Santos-Rebouças; Maytza Mayndra; Albert Schinzel; Mariluce Riegel
Journal:  Genes (Basel)       Date:  2021-04-23       Impact factor: 4.096

2.  Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.

Authors:  Guillaume Jedraszak; Henri Copin; Manuel Demailly; Catherine Quibel; Thierry Leclerc; Marlène Gallet; Moncef Benkhalifa; Aline Receveur
Journal:  Mol Cytogenet       Date:  2015-06-04       Impact factor: 2.009

3.  Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.

Authors:  Eleonora Marchina; Michela Forti; Mariella Tonelli; Stefania Maccarini; Francesca Malvestiti; Chiara Piantoni; Elena Filippini; Elisa Fazzi; Giuseppe Borsani
Journal:  Mol Cytogenet       Date:  2021-01-20       Impact factor: 2.009

4.  Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype.

Authors:  Stephan Kemeny; Florence Brugnon; Eléonore Eymard-Pierre; Carole Goumy; Laurent Janny; Andreï Tchirkov; Christine Francannet; Philippe Vago; Céline Pebrel-Richard
Journal:  Asian J Androl       Date:  2017 Jan-Feb       Impact factor: 3.285
  4 in total

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