Literature DB >> 2622712

[Proximal trisomy 19q. Interstitial deletion and ring chromosome derived from 19q].

F Klein1, D Schuck, B Noël, J Stoessel, M Vibert.   

Abstract

A proximal 19q duplication was observed in lymphocytes of a young boy with mental retardation, dysmorphism (weight excess, macrocephaly, downward slanted palpebral fissures, hypertelorism, broad nose, typical mouth), without visceral malformation. His mother had an interstitial deletion and ring chromosome derived from 19q.

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Year:  1989        PMID: 2622712

Source DB:  PubMed          Journal:  Pediatrie        ISSN: 0031-4021


  1 in total

1.  Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.

Authors:  P Stankiewicz; E Bocian; K Jakubów-Durska; E Obersztyn; E Lato; H Starke; K Mroczek; T Mazurczak
Journal:  J Med Genet       Date:  2000-02       Impact factor: 6.318

  1 in total

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