Literature DB >> 7794563

Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature.

A S Plomp1, C T Schrander-Stumpel, J J Engelen, J M Sijstermans, W H Loneus, J P Fryns.   

Abstract

We report a mentally retarded girl with minimal dysmorphic signs. Cytogenetic examination showed an interstitial deletion of chromosome 8: 46, XX, del(8)(p21.2p22). This deletion has not been reported before. We compare the patient with the literature data.

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Year:  1995        PMID： 7794563

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  2 in total

Review 1.  Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Authors:  A S Plomp; J J Engelen; J C Albrechts; C E de Die-Smulders; A J Hamers
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

2.  De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.

Authors:  Giovanna Piovani; Giulia Savio; Michele Traversa; Alba Pilotta; Giuseppina De Petro; Sergio Barlati; Chiara Magri
Journal:  Mol Cytogenet       Date:  2014-04-15       Impact factor: 2.009
  2 in total

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