Literature DB >> 3168312

Familial partial trisomy 5p resulting from segregation of an insertional translocation.

K H Gustavson1, P O Lundberg, P Nicol.   

Abstract

A case of duplication of segment p13-p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalies.

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Year:  1988        PMID： 3168312     DOI： 10.1111/j.1399-0004.1988.tb03472.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  2 in total

1.  Pure partial trisomy of the short arm of chromosome 5.

Authors:  M O Rethoré; M C Blois; M Peeters; P Popowski; C Pangalos; J Lejeune
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

2.  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
  2 in total

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