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Updated: Mar 23, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
Glomerulopathy in patients with distal duplication of chromosome 6p
Augustina Jankauskienė1, Magdalena Koczkowska2, Anna Bjerre3
1Vilnius University, Children hospital affiliate of Vilnius university hospital "Santariskiu klinikos", Santariskiu 4, LT-08406, Vilnius, Lithuania. augustinajankauskiene@yahoo.com.
Background:
Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a proteinuric glomerulopathy.
Case Presentation:
Here, we report a 13-year-old girl with 6p25.3p22.1 duplication who presented with proteinuria in infancy, was later diagnosed as focal segmental glomerulosclerosis, progressed to end-stage renal disease and was successfully transplanted.
Conclusion:
A systematic literature review suggests that 15-20 % of individuals with distal 6p duplication develop progressive proteinuric glomerulopathy. Monitoring of kidney function should be recommended in all cases.
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