Document Detail

Prenatal diagnosis of mucolipidosis II--electron microscopy and biochemical evaluation.
MedLine Citation:
PMID:  10210124     Owner:  NLM     Status:  MEDLINE    
Prenatal diagnosis of mucolipidosis type II (I-cell disease) can be performed quickly and reliably by electron microscopy of chorionic villus tissue. This study reports the results of studies in three prenatal assessments (two families) where the pregnancy was at one in four risk of the disorder. In all three cases, electron microscopy showed marked vacuolation in chorionic villus cells, consistent with the fetus being affected by the disorder. Further studies in cultured chorionic villus cells showed a marked deficiency of a number of lysosomal enzymes. All pregnancies were terminated. Follow-up studies in fetal tissue (where available) confirmed the prenatal diagnosis as correct.
W F Carey; A Jaunzems; M Richardson; B A Fong; S J Chin; P V Nelson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  19     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1999 Mar 
Date Detail:
Created Date:  1999-07-28     Completed Date:  1999-07-28     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  252-6     Citation Subset:  IM    
Department of Chemical Pathology, Women's and Children's Hopital, North Adelaide, South Australia, Australia.
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MeSH Terms
Cells, Cultured
Chorionic Villi Sampling
Evaluation Studies as Topic
Lysosomes / enzymology*
Microscopy, Electron
Mucolipidoses / diagnosis*,  metabolism,  pathology
Prenatal Diagnosis*

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