Literature DB >> 1344067

Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-qter.

F H Menko1, K Madan, J A Baart, H L Beukenhorst.   

Abstract

We have investigated a patient with the Robin sequence and a unilateral deficiency of the left forearm. She was found to have a terminal deletion of the long arm of chromosome 4, del(4)(q33). The clinical manifestations of this patient differ from those of 7 previously described patients with a deletion of the same segment.

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Year:  1992        PMID： 1344067     DOI： 10.1002/ajmg.1320440532

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


  2 in total

Review 1.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

Review 2.  Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

Authors:  Barbara Vona; Indrajit Nanda; Cordula Neuner; Jörg Schröder; Vera M Kalscheuer; Wafaa Shehata-Dieler; Thomas Haaf
Journal:  BMC Med Genet       Date:  2014-06-25       Impact factor: 2.103
  2 in total

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