Literature DB >> 3329638

Renal and urinary tract abnormalities associated with chromosome aberrations.

A Y Barakat1, M G Butler.   

Abstract

The frequency of malformations of the kidney and urinary tract is much higher in patients with chromosome aberrations than in the general population. Sixty to 100% of "cat-eye" syndrome, 60 to 80% of Turner, 75% of trisomy 8, 33 to 70% of trisomy 18, 50 to 60% of trisomy 13, and over 50% of triploidy and tetraploidy patients may have such abnormalities. Renal and urinary tract malformations should be looked for in all patients with chromosome aberrations. Moreover, a chromosome study is indicated in any fetus with an ultrasonographic evidence of urinary tract abnormality.

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Year:  1987        PMID: 3329638      PMCID: PMC6684339     

Source DB:  PubMed          Journal:  Int J Pediatr Nephrol        ISSN: 0391-6510


  5 in total

1.  Reliability of ultrasound in the prenatal diagnosis of urinary tract abnormalities.

Authors:  A J Barakat; M G Butler; C G Cobb; J W Coursey; D Shah
Journal:  Pediatr Nephrol       Date:  1991-01       Impact factor: 3.714

2.  An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.

Authors:  E W Roback; A J Barakat; V G Dev; M Mbikay; M Chrétien; M G Butler
Journal:  Am J Med Genet       Date:  1991-01

3.  The eye in the CHARGE association.

Authors:  I M Russell-Eggitt; K D Blake; D S Taylor; R K Wyse
Journal:  Br J Ophthalmol       Date:  1990-07       Impact factor: 4.638

4.  COVID-19 in a mosaic trisomy 13 patient with polycystic kidney disease.

Authors:  Natalie K Ost; Heather M Minchew; Andrew Garcia; Hammad A Ganatra
Journal:  SAGE Open Med Case Rep       Date:  2022-08-17

5.  Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.

Authors:  Robin Z Hayeems; Ny Hoang; Sebastien Chenier; Dimitri J Stavropoulos; Shuye Pu; Rosanna Weksberg; Cheryl Shuman
Journal:  Eur J Hum Genet       Date:  2014-12-10       Impact factor: 4.246

  5 in total

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