Document Detail


Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation.
MedLine Citation:
PMID:  9483639     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe six cases of trisomy 13 mosaicism detected at prenatal diagnosis. Most level I and level II trisomy 13 mosaicism detected at prenatal diagnosis is pseudomosaicism or confined placental mosaicism. Rarely, low-level mosaicism at chorionic villus sampling or amniocentesis reflects a true fetal mosaicism. In this case, a normal phenotype is a possible, but not a certain, outcome. Genetic counselling is not straightforward.
Authors:
M B Delatycki; M D Pertile; R J Gardner
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  18     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1998 Jan 
Date Detail:
Created Date:  1998-03-19     Completed Date:  1998-03-19     Revised Date:  2004-11-18    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  45-50     Citation Subset:  IM    
Affiliation:
Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.
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MeSH Terms
Descriptor/Qualifier:
Adult
Amniocentesis
Chorionic Villi Sampling
Chromosomes, Human, Pair 13*
Female
Humans
Infant, Newborn
Karyotyping
Maternal Age
Mosaicism*
Pregnancy
Pregnancy, High-Risk
Prenatal Diagnosis*
Trisomy*

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


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