ArticleBMC nephrology2016
Glomerulopathy in patients with distal duplication of chromosome 6p.
Article in BMC nephrology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Alagille-like syndrome with surprising karyotype: a case report.Journal of medical case reports · 2023Article
- De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism.Molecular syndromology · 2023Article
- De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2022Article
- An Adolescent with a RareCase reports in genetics · 2020Article
- Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.Croatian medical journal · 2017Article
- Anesthetic management of a patient with chromosome 6p duplication: a case report.Journal of dental anesthesia and pain medicine · 2017Article
- Erratum to: Glomerulopathy in patients with distal duplication of chromosome 6p.BMC nephrology · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuplication 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.
conclusionA 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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Registered trials
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