Literature DB >> 1552879

[Partial deletion of the long arm of chromosome 17. Presentation of a clinical case].

A Giannotti1, A Alessandri, A Reale, M C Digilio, M G Valorani.   

Abstract

A partial deletion of the long arm of chromosome 17 has been found in a liveborn infant. The clinical findings of the propositus are compared with those of a previously reported case allowing delineation of a hitherto unrecognized partial deletion (17q) syndrome.

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Year:  1992        PMID: 1552879

Source DB:  PubMed          Journal:  Minerva Pediatr        ISSN: 0026-4946            Impact factor:   1.312


  1 in total

Review 1.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

  1 in total

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