Literature DB >> 7977458

Deletion of the short arm of chromosome 10 (10p13): report of a patient and review.

M Shapira1, Z Borochowitz, H Bar-El, H Dar, A Etzioni, A Lorber.   

Abstract

Since the first description by Elliot et al. [1970, Am J Dis Child 119:72-73] of a probable partial deletion of chromosome 10p, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The 10p deletion syndrome has been associated with the DiGeorge anomaly in several patients. We report on an additional case of 10p deletion syndrome and review the literature.

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Year:  1994        PMID: 7977458     DOI: 10.1002/ajmg.1320520107

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

Review 1.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

2.  Neurophysiological findings in a newborn with chromosome 10 trisomy.

Authors:  Simone Vidale; Franco Di Palma; Luigi Sironi; Marco Arnaboldi
Journal:  BMJ Case Rep       Date:  2014-05-05

3.  Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).

Authors:  R Ruiz Esparza-Garrido; A C Velázquez-Wong; M A Araujo-Solís; J C Huicochea-Montiel; M Á Velázquez-Flores; F Salamanca-Gómez; D J Arenas-Aranda
Journal:  Mol Syndromol       Date:  2012-07-10

Review 4.  Inborn errors of thymic stromal cell development and function.

Authors:  Alexandra Y Kreins; Stefano Maio; Fatima Dhalla
Journal:  Semin Immunopathol       Date:  2020-11-30       Impact factor: 9.623

  4 in total

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