Literature DB >> 1018312

Renal function studies in an infant with 4p (-) syndrome.

M Schoeneman, M M Nitowsky.   

Abstract

An infant with the syndrome of deletion of the short arm of chromosome 4 is described. In addition, this child had renal insufficiency, which is found rarely in association with the 4p(--) syndrome. Previous reports of this syndrome have described only isolated gross structural abnormalites of the urinary tract. In the case discussed here, we present clinical and functional data which indicate that this patient had bilateral renal dysplasia.

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Year:  1976        PMID: 1018312      PMCID: PMC1013485          DOI: 10.1136/jmg.13.6.522

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

1.  The 4p-syndrome, with a report of two new cases.

Authors:  J P Fryns; E Eggermont; H Verresen; H Van den Berghe
Journal:  Humangenetik       Date:  1973

2.  The development of the renal acidifying processes and their relation to acidosis in low-birth-weight infants.

Authors:  E Kerpel-Fronius; T Heim; E Sulyok
Journal:  Biol Neonate       Date:  1970

3.  Short-arm deletion, chromosome 4, (4p-), a syndrome?

Authors:  A I Taylor; D N Challacombe; R M Howlett
Journal:  Ann Hum Genet       Date:  1970-10       Impact factor: 1.670

4.  Deletion of short arm of no. 4 (4p-)--a detailed case report.

Authors:  A R Wilcock; F G Adams; P Cooke; R R Gordon
Journal:  J Med Genet       Date:  1970-06       Impact factor: 6.318

5.  [Deficiency on the short arms of a chromosome No. 4].

Authors:  U Wolf; H Reinwein; R Porsch; R Schröter; H Baitsch
Journal:  Humangenetik       Date:  1965

6.  [On a case of "crying cat" syndrome with peculiar phenotypic anomalies].

Authors:  P L Giorgi; M Ceccarelli; A Paci
Journal:  Minerva Pediatr       Date:  1965-12-15       Impact factor: 1.312

  6 in total
  1 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

  1 in total

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