Document Detail


Hereditary renal adysplasia: new observations and hypotheses.
MedLine Citation:
PMID:  8065999     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Renal agenesis and dysplasia are frequently regarded by pathologists, even pediatric pathologists, as sporadic malformations. We report six fetal autopsy cases of hereditary renal adysplasia (HRA): two pairs of siblings, one case with paternal unilateral renal agenesis, and one case with an autosomal balanced 6p/19q translocation. The main purpose of this paper is to emphasize that nonsyndromal renal agenesis and dysplasia are pathogenetically related and often inherited as an autosomal dominant trait with incomplete penetrance and variable expression. A subsidiary purpose is to present a case of bilateral multicystic dysplasia with a balanced 6p/19q translocation. This observation further supports the assignment of one of the loci for HRA to chromosome 6p.
Authors:
P Moerman; J P Fryns; S H Sastrowijoto; K Vandenberghe; J M Lauweryns
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric pathology / affiliated with the International Paediatric Pathology Association     Volume:  14     ISSN:  0277-0938     ISO Abbreviation:  Pediatr Pathol     Publication Date:    1994 May-Jun
Date Detail:
Created Date:  1994-09-22     Completed Date:  1994-09-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8303527     Medline TA:  Pediatr Pathol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  405-10     Citation Subset:  IM    
Affiliation:
Department of Pathology I, Catholic University of Leuven, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple
Amniotic Fluid / cytology
Cells, Cultured
Chromosomes, Human, Pair 6
Female
Fetal Death
Fetal Diseases / genetics,  pathology
Fibroblasts / pathology
Gestational Age
Humans
Infant, Newborn
Karyotyping
Kidney / abnormalities*
Male
Polycystic Kidney, Autosomal Dominant / genetics*,  pathology
Translocation, Genetic / genetics

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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