| Focal segmental glomerulosclerosis and partial deletion of chromosome 6p: a case report. | |
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MedLine Citation:
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PMID: 21722607 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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´We treated a patient with 6p partial deletion syndrome diagnosed after proteinuria was detected during developmental examination 3 years after birth. External anomalies included ocular hypertelorism, saddle nose, elongated philtrum, tent-like lips, and low-set auricles. Mental retardation was evident. The karyotype was 46,XX,del(6) (p.22.1-p22.3) with an interstitial deletion. The kidneys showed no abnormality on imaging such as hydronephrosis, atrophy, or malformation. Examination of a renal biopsy specimen disclosed focal segmental glomerulosclerosis. No cardiac anomaly or Rieger anomaly, which often are present in this syndrome, were noted. |
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Authors:
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A Izu; H Yanagida; K Sugimoto; S Fujita; M Okada; T Takemura |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical nephrology Volume: 76 ISSN: 0301-0430 ISO Abbreviation: Clin. Nephrol. Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-07-04 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0364441 Medline TA: Clin Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 64-7 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Kinki University School of Medicine, Osaka, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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