Document Detail


First-trimester diagnosis of Hunter syndrome: very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus.
MedLine Citation:
PMID:  1820774     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Iduronate sulphatase activity was determined in uncultured chorionic villi from four fetuses at risk for Hunter syndrome. All fetuses were shown to be female by chromosome analysis. Biopsy material from three fetuses showed iduronate sulphatase activity within normal limits whilst the fourth fetus showed activity reduced to 7 per cent of our control mean. The importance of fetal sexing in prenatal diagnosis of this condition is emphasized as female carrier fetuses may show iduronate sulphatase activity reduced to levels observed in affected males.
Authors:
A Cooper; M Thornley; J E Wraith
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  11     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1991 Sep 
Date Detail:
Created Date:  1992-03-23     Completed Date:  1992-03-23     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  731-5     Citation Subset:  IM    
Affiliation:
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester, U.K.
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MeSH Terms
Descriptor/Qualifier:
Chorionic Villi Sampling*
Female
Heterozygote
Humans
Mucopolysaccharidosis II* / diagnosis*,  genetics
Pregnancy
Pregnancy Trimester, First
Sex Determination (Analysis)
Comments/Corrections
Comment In:
Prenat Diagn. 1992 Jan;12(1):72-3   [PMID:  1557316 ]

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


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