Document Detail

Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling.
MedLine Citation:
PMID:  3211856     Owner:  NLM     Status:  MEDLINE    
We present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/47,XXX chromosome constitution. This may have simply represented the chance concurrence of pseudo-mosaicism in the amniotic fluid culture of a woman with an abnormal sex chromosome constitution, but it is also possible that the 45,X colony was maternal in origin. Although clearly a most unusual circumstance, the possibility should be kept in mind when termination of a pregnancy is being considered because of apparent mosaicism in a prenatal diagnostic study.
A G Hunter; M D'Alton; B Ivey; H S Wang; D W Thompson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  8     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1988 Nov 
Date Detail:
Created Date:  1989-02-16     Completed Date:  1989-02-16     Revised Date:  2004-11-18    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  673-5     Citation Subset:  IM    
Division of Genetics, Children's Hospital of Eastern Ontario, Canada.
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MeSH Terms
Infant, Newborn
Maternal Age
Pregnancy Complications / diagnosis*
Pregnancy, High-Risk
Sex Chromosome Aberrations / diagnosis*
Umbilical Cord / ultrastructure*

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

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