Document Detail


Prenatal diagnosis of trisomy 9 mosaicism: two new cases.
MedLine Citation:
PMID:  8309895     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present two prenatal cases of trisomy 9 mosaicism, both of which presented intrauterine growth retardation (IUGR) and other abnormal ultrasound findings. In case A, mosaicism was found in amniotic fluid cell cultures, of which 65 per cent were trisomic cells, on average. In case B, trisomic cells were present in amniotic fluid cell cultures (12 per cent) but none were found in fetal cord blood. After autopsy, cytogenetic findings were confirmed in different tissue cultures. It is concluded that echographic indicators are a very useful tool for a correct prenatal diagnostic interpretation of trisomy 9. Suspected trisomy 9 mosaicism always requires further investigation and fetal cord blood cytogenetic analysis may not be considered as providing an accurate diagnosis of fetal trisomy 9.
Authors:
A Merino; A De Perdigo; F Nombalais; M Yvinec; M G Le Roux; V Bellec
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  13     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1993 Oct 
Date Detail:
Created Date:  1994-03-17     Completed Date:  1994-03-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1001-7     Citation Subset:  IM    
Affiliation:
Laboratoire de Cytogénétique Anténatale, Centre Hospitalaire et Universitaire de Nantes, France.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  ultrasonography
Adult
Amniocentesis*
Chromosomes, Human, Pair 9*
Facial Bones / abnormalities
Female
Fetal Growth Retardation / genetics,  ultrasonography
Humans
Mosaicism*
Pregnancy
Pregnancy Trimester, Second
Skull / abnormalities
Stomach / abnormalities
Trisomy*
Ultrasonography, Prenatal

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


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