Literature DB >> 1887853

Interstitial deletion of 4(q21q25) in a liveborn male.

N C Rose1, A Schneider, D M McDonald-McGinn, C Caserta, B S Emanuel, E H Zackai.   

Abstract

We describe a liveborn male with a de novo deletion of 4(q21q25). The findings in this infant are compared with those of other 4q interstitial deletion patients with similar break-points. Given the reproducible findings including skull asymmetry, cardiac defects, renal cysts, "butterfly" vertebrae, as well as a particular dysmorphic face with developmental delay, there is evidence for an interstitial 4q deletion syndrome.

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Year:  1991        PMID: 1887853     DOI: 10.1002/ajmg.1320400115

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

2.  Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Authors:  Cláudia Teles-Silva; Francisca Martins; Sandra Costa; Paulo Soares; Gustavo Rocha; Filipa Flor-de-Lima; Helena Pinto; Carla Ramalho; Renata Oliveira; Otília Brandão; Hercília Guimarães
Journal:  J Pediatr Genet       Date:  2020-01-22
  2 in total

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