Document Detail


Trisomy C and cystic dysplasia of kidneys, liver and pancreas.
MedLine Citation:
PMID:  953215     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Trisomy C is documented in a 17-hour-old full-term male infant with bilateral diffuse renal dysplasia, Potter facies, pulmonary hypoplasia and other congenital anomalies. In addition to renal dysplasia, intrahepatic bile duct and pancreatic dysplasia are demonstrated microscopically. The extra C-group autosome is morphologically consistent with a No. 11 and this is regarded as the etiology of the multiple malformations of this infant. The phenotype and the renal malformation are essentially similar to those described by Juberg et al (3) in an infant with trisomy C. It is suggested that the same chromosome is involved in both cases. Karyotype analysis should be performed on patients suspected of congenital renal malformations since the evidence implicates trisomy C as the etiology of at least some cases of bilateral renal dysplasia.
Authors:
J D Blair
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Birth defects original article series     Volume:  12     ISSN:  0547-6844     ISO Abbreviation:  Birth Defects Orig. Artic. Ser.     Publication Date:  1976  
Date Detail:
Created Date:  1976-11-01     Completed Date:  1976-11-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0003403     Medline TA:  Birth Defects Orig Artic Ser     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  139-49     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Chromosomes, Human, 6-12 and X*
Humans
Infant, Newborn
Karyotyping
Kidney / pathology
Liver / abnormalities*,  pathology
Male
Pancreas / abnormalities*,  pathology
Polycystic Kidney Diseases / genetics*,  pathology
Trisomy*

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


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