Literature DB >> 1863994

Second case report of del(4) (q25q27) and review of the literature.

C Raczenbek1, N Krassikoff, P Cosper.   

Abstract

We report a malformed infant with a de novo interstitial deletion of 4q. This is the second patient reported with del(4) (q25q27). Although there are several common features such as marked hypotonia, cardiac abnormalities, cleft palate, and micrognathia noted in our case and that of Chudley et al. (1988), we conclude from our comparison of the seven previously reported cases involving deletions of bands 4(q25q27) that a specific phenotype cannot yet be described for this deletion.

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Year:  1991        PMID: 1863994     DOI: 10.1111/j.1399-0004.1991.tb03058.x

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


  4 in total

Review 1.  Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Authors:  Zeynep Tümer; Daniella Bach-Holm
Journal:  Eur J Hum Genet       Date:  2009-06-10       Impact factor: 4.246

Review 2.  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

3.  A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature.

Authors:  Sandra Anna Becker; Susanne Popp; Klaus Rager; Anna Jauch
Journal:  Eur J Pediatr       Date:  2003-02-19       Impact factor: 3.183

4.  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
  4 in total

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